UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1059968
ClinVar RCV Id:
RCV001369337
dbSNP Id:
rs754652044
ExAC:
7:55249118 A / G
gnomAD v2:
7-55249118-A-G
gnomAD v3:
7-55181425-A-G
gnomAD v4:
7-55181425-A-G
COSMIC:
COSM28609
CIViC:
CA4266068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181425A>G , CM000669.2:g.55181425A>G | GRCh38 |
| NC_000007.13:g.55249118A>G , CM000669.1:g.55249118A>G | GRCh37 |
| NC_000007.12:g.55216612A>G | NCBI36 |
| NG_007726.3:g.167394A>G , LRG_304:g.167394A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2257A>G (EGFR) | ENSP00000413354.2:p.Lys753Glu | |
| ENST00000700145.1:c.765A>G (EGFR) | ||
| ENST00000275493.7:c.2416A>G (EGFR) MANE Select | ENSP00000275493.2:p.Lys806Glu | |
| ENST00000275493.6:c.2416A>G (EGFR) | ENSP00000275493.2:p.Lys806Glu | |
| ENST00000442591.5:c.*28+8497A>G (EGFR) | ENSP00000410031.1:n.*28+8497A>G | |
| ENST00000454757.6:c.2281A>G (EGFR) | ENSP00000395243.3:p.Lys761Glu | |
| ENST00000455089.5:c.2281A>G (EGFR) | ENSP00000415559.1:p.Lys761Glu | |
| NM_005228.3:c.2416A>G , LRG_304t1:c.2416A>G (EGFR) | NP_005219.2:p.Lys806Glu | |
| NR_047551.1:n.1146T>C (EGFR-AS1) | ||
| NM_001346897.1:c.2281A>G (EGFR) | NP_001333826.1:p.Lys761Glu | |
| NM_001346898.1:c.2416A>G (EGFR) | NP_001333827.1:p.Lys806Glu | |
| NM_001346899.1:c.2281A>G (EGFR) | NP_001333828.1:p.Lys761Glu | |
| NM_001346900.1:c.2257A>G (EGFR) | NP_001333829.1:p.Lys753Glu | |
| NM_001346941.1:c.1615A>G (EGFR) | NP_001333870.1:p.Lys539Glu | |
| NM_005228.4:c.2416A>G (EGFR) | NP_005219.2:p.Lys806Glu | |
| NM_005228.5:c.2416A>G (EGFR) MANE Select | NP_005219.2:p.Lys806Glu | |
| NM_001346897.2:c.2281A>G (EGFR) | NP_001333826.1:p.Lys761Glu | |
| NM_001346898.2:c.2416A>G (EGFR) | NP_001333827.1:p.Lys806Glu | |
| NM_001346900.2:c.2257A>G (EGFR) | NP_001333829.1:p.Lys753Glu | |
| NM_001346941.2:c.1615A>G (EGFR) | NP_001333870.1:p.Lys539Glu | |
| NM_001346899.2:c.2281A>G (EGFR) | NP_001333828.1:p.Lys761Glu |