Canonical Allele Identifier: CA135827
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45244
ClinVar RCV Id: RCV000038400 RCV000435465
dbSNP Id: rs121913418
gnomAD v4: 7-55174818-G-T
COSMIC: COSM21984
MyVariant Identifiers: chr7:g.55242511G>T (hg19) chr7:g.55174818G>T (hg38)
CIViC: CA135827
PubMed: PMID:16730855 PMID:17085664 PMID:17192902 PMID:25157968
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174818G>T , CM000669.2:g.55174818G>T GRCh38
NC_000007.13:g.55242511G>T , CM000669.1:g.55242511G>T GRCh37
NC_000007.12:g.55210005G>T NCBI36
NG_007726.3:g.160787G>T , LRG_304:g.160787G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2122G>T ENSP00000413354.2:p.Asp708Tyr
ENST00000700145.1:c.630G>T
ENST00000275493.7:c.2281G>T MANE Select ENSP00000275493.2:p.Asp761Tyr
ENST00000275493.6:c.2281G>T ENSP00000275493.2:p.Asp761Tyr
ENST00000442591.5:c.*28+1890G>T ENSP00000410031.1:n.*28+1890G>T
ENST00000454757.6:c.2146G>T ENSP00000395243.3:p.Asp716Tyr
ENST00000455089.5:c.2146G>T ENSP00000415559.1:p.Asp716Tyr
NM_005228.3:c.2281G>T , LRG_304t1:c.2281G>T NP_005219.2:p.Asp761Tyr
NM_001346897.1:c.2146G>T NP_001333826.1:p.Asp716Tyr
NM_001346898.1:c.2281G>T NP_001333827.1:p.Asp761Tyr
NM_001346899.1:c.2146G>T NP_001333828.1:p.Asp716Tyr
NM_001346900.1:c.2122G>T NP_001333829.1:p.Asp708Tyr
NM_001346941.1:c.1480G>T NP_001333870.1:p.Asp494Tyr
NM_005228.4:c.2281G>T NP_005219.2:p.Asp761Tyr
NM_005228.5:c.2281G>T MANE Select NP_005219.2:p.Asp761Tyr
NM_001346897.2:c.2146G>T NP_001333826.1:p.Asp716Tyr
NM_001346898.2:c.2281G>T NP_001333827.1:p.Asp761Tyr
NM_001346900.2:c.2122G>T NP_001333829.1:p.Asp708Tyr
NM_001346941.2:c.1480G>T NP_001333870.1:p.Asp494Tyr
NM_001346899.2:c.2146G>T NP_001333828.1:p.Asp716Tyr
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