Canonical Allele Identifier: CA16602723
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376275
ClinVar RCV Id: RCV000444748
dbSNP Id: rs121913467
COSMIC: COSM13432

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174730G>A , CM000669.2:g.55174730G>A GRCh38
NC_000007.13:g.55242423G>A , CM000669.1:g.55242423G>A GRCh37
NC_000007.12:g.55209917G>A NCBI36
NG_007726.3:g.160699G>A , LRG_304:g.160699G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2193G>A MANE Select ENSP00000275493.2:p.Trp731Ter
ENST00000275493.6:c.2193G>A ENSP00000275493.2:p.Trp731Ter
ENST00000442591.5:c.*28+1802G>A ENSP00000410031.1:p.=
ENST00000454757.6:c.2058G>A ENSP00000395243.3:p.Trp686Ter
ENST00000455089.5:c.2058G>A ENSP00000415559.1:p.Trp686Ter
NM_005228.3:c.2193G>A , LRG_304t1:c.2193G>A NP_005219.2:p.Trp731Ter
NM_001346897.1:c.2058G>A NP_001333826.1:p.Trp686Ter
NM_001346898.1:c.2193G>A NP_001333827.1:p.Trp731Ter
NM_001346899.1:c.2058G>A NP_001333828.1:p.Trp686Ter
NM_001346900.1:c.2034G>A NP_001333829.1:p.Trp678Ter
NM_001346941.1:c.1392G>A NP_001333870.1:p.Trp464Ter
NM_005228.4:c.2193G>A NP_005219.2:p.Trp731Ter
NM_005228.5:c.2193G>A MANE Select NP_005219.2:p.Trp731Ter
NM_001346897.2:c.2058G>A NP_001333826.1:p.Trp686Ter
NM_001346898.2:c.2193G>A NP_001333827.1:p.Trp731Ter
NM_001346900.2:c.2034G>A NP_001333829.1:p.Trp678Ter
NM_001346941.2:c.1392G>A NP_001333870.1:p.Trp464Ter
NM_001346899.2:c.2058G>A NP_001333828.1:p.Trp686Ter