Canonical Allele Identifier: CA4265987
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1060740
ClinVar RCV Id: RCV001370208
dbSNP Id: rs767505234
ExAC: 7:55241726 C / T
gnomAD v2: 7-55241726-C-T
gnomAD v3: 7-55174033-C-T
gnomAD v4: 7-55174033-C-T
COSMIC: COSM53264
MyVariant Identifiers: chr7:g.55241726C>T (hg19) chr7:g.55174033C>T (hg38)
CIViC: CA4265987
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174033C>T , CM000669.2:g.55174033C>T GRCh38
NC_000007.13:g.55241726C>T , CM000669.1:g.55241726C>T GRCh37
NC_000007.12:g.55209220C>T NCBI36
NG_007726.3:g.160002C>T , LRG_304:g.160002C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2015C>T ENSP00000413354.2:p.Thr672Met
ENST00000700145.1:c.523C>T
ENST00000275493.7:c.2174C>T MANE Select ENSP00000275493.2:p.Thr725Met
ENST00000275493.6:c.2174C>T ENSP00000275493.2:p.Thr725Met
ENST00000442591.5:c.*28+1105C>T ENSP00000410031.1:n.*28+1105C>T
ENST00000454757.6:c.2039C>T ENSP00000395243.3:p.Thr680Met
ENST00000455089.5:c.2039C>T ENSP00000415559.1:p.Thr680Met
NM_005228.3:c.2174C>T , LRG_304t1:c.2174C>T NP_005219.2:p.Thr725Met
NM_001346897.1:c.2039C>T NP_001333826.1:p.Thr680Met
NM_001346898.1:c.2174C>T NP_001333827.1:p.Thr725Met
NM_001346899.1:c.2039C>T NP_001333828.1:p.Thr680Met
NM_001346900.1:c.2015C>T NP_001333829.1:p.Thr672Met
NM_001346941.1:c.1373C>T NP_001333870.1:p.Thr458Met
NM_005228.4:c.2174C>T NP_005219.2:p.Thr725Met
NM_005228.5:c.2174C>T MANE Select NP_005219.2:p.Thr725Met
NM_001346897.2:c.2039C>T NP_001333826.1:p.Thr680Met
NM_001346898.2:c.2174C>T NP_001333827.1:p.Thr725Met
NM_001346900.2:c.2015C>T NP_001333829.1:p.Thr672Met
NM_001346941.2:c.1373C>T NP_001333870.1:p.Thr458Met
NM_001346899.2:c.2039C>T NP_001333828.1:p.Thr680Met
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