Canonical Allele Identifier: CA4266102
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 560007
dbSNP Id: rs150036236
gnomAD v2: 7-55259434-G-A
gnomAD v3: 7-55191741-G-A
gnomAD v4: 7-55191741-G-A
COSMIC: COSM53105

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191741G>A , CM000669.2:g.55191741G>A GRCh38
NC_000007.13:g.55259434G>A , CM000669.1:g.55259434G>A GRCh37
NC_000007.12:g.55226928G>A NCBI36
NG_007726.3:g.177710G>A , LRG_304:g.177710G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2333G>A ENSP00000413354.2:p.Arg778His
ENST00000700145.1:c.841G>A
ENST00000275493.7:c.2492G>A MANE Select ENSP00000275493.2:p.Arg831His
ENST00000275493.6:c.2492G>A ENSP00000275493.2:p.Arg831His
ENST00000442591.5:c.*28+18813G>A ENSP00000410031.1:n.*28+18813G>A
ENST00000454757.6:c.2357G>A ENSP00000395243.3:p.Arg786His
ENST00000455089.5:c.2357G>A ENSP00000415559.1:p.Arg786His
NM_005228.3:c.2492G>A , LRG_304t1:c.2492G>A NP_005219.2:p.Arg831His
NM_001346897.1:c.2357G>A NP_001333826.1:p.Arg786His
NM_001346898.1:c.2492G>A NP_001333827.1:p.Arg831His
NM_001346899.1:c.2357G>A NP_001333828.1:p.Arg786His
NM_001346900.1:c.2333G>A NP_001333829.1:p.Arg778His
NM_001346941.1:c.1691G>A NP_001333870.1:p.Arg564His
NM_005228.4:c.2492G>A NP_005219.2:p.Arg831His
NM_005228.5:c.2492G>A MANE Select NP_005219.2:p.Arg831His
NM_001346897.2:c.2357G>A NP_001333826.1:p.Arg786His
NM_001346898.2:c.2492G>A NP_001333827.1:p.Arg831His
NM_001346900.2:c.2333G>A NP_001333829.1:p.Arg778His
NM_001346941.2:c.1691G>A NP_001333870.1:p.Arg564His
NM_001346899.2:c.2357G>A NP_001333828.1:p.Arg786His