Canonical Allele Identifier: CA16602834

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376396
• ClinVar RCV Id: RCV000427425 ; RCV000434840 ; RCV000443311
• dbSNP Id: rs149840192
• COSMIC: COSM21685 ; COSM2153688
• MyVariant Identifiers: chr7:g.55221822C>A (hg19) ; chr7:g.55154129C>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55154129C>A , CM000669.2:g.55154129C>A	GRCh38
NC_000007.13:g.55221822C>A , CM000669.1:g.55221822C>A	GRCh37
NC_000007.12:g.55189316C>A	NCBI36
NG_007726.3:g.140098C>A , LRG_304:g.140098C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.707C>A	ENSP00000413354.2:p.Ala236Asp
ENST00000700144.1:n.1056C>A
ENST00000344576.7:c.866C>A	ENSP00000345973.2:p.Ala289Asp
ENST00000275493.7:c.866C>A MANE Select	ENSP00000275493.2:p.Ala289Asp
ENST00000275493.6:c.866C>A	ENSP00000275493.2:p.Ala289Asp
ENST00000342916.7:c.866C>A	ENSP00000342376.3:p.Ala289Asp
ENST00000344576.6:c.866C>A	ENSP00000345973.2:p.Ala289Asp
ENST00000420316.6:c.866C>A	ENSP00000413843.2:p.Ala289Asp
ENST00000442591.5:c.866C>A	ENSP00000410031.1:p.Ala289Asp
ENST00000454757.6:c.731C>A	ENSP00000395243.3:p.Ala244Asp
ENST00000455089.5:c.731C>A	ENSP00000415559.1:p.Ala244Asp
NM_005228.3:c.866C>A , LRG_304t1:c.866C>A	NP_005219.2:p.Ala289Asp
NM_201282.1:c.866C>A	NP_958439.1:p.Ala289Asp
NM_201283.1:c.866C>A	NP_958440.1:p.Ala289Asp
NM_201284.1:c.866C>A	NP_958441.1:p.Ala289Asp
NM_001346897.1:c.731C>A	NP_001333826.1:p.Ala244Asp
NM_001346898.1:c.866C>A	NP_001333827.1:p.Ala289Asp
NM_001346899.1:c.731C>A	NP_001333828.1:p.Ala244Asp
NM_001346900.1:c.707C>A	NP_001333829.1:p.Ala236Asp
NM_001346941.1:c.89-1701C>A	NP_001333870.1:n.89-1701C>A
NM_005228.4:c.866C>A	NP_005219.2:p.Ala289Asp
NM_005228.5:c.866C>A MANE Select	NP_005219.2:p.Ala289Asp
NM_001346897.2:c.731C>A	NP_001333826.1:p.Ala244Asp
NM_001346898.2:c.866C>A	NP_001333827.1:p.Ala289Asp
NM_001346900.2:c.707C>A	NP_001333829.1:p.Ala236Asp
NM_001346941.2:c.89-1701C>A	NP_001333870.1:n.89-1701C>A
NM_201282.2:c.866C>A	NP_958439.1:p.Ala289Asp
NM_201284.2:c.866C>A	NP_958441.1:p.Ala289Asp
NM_001346899.2:c.731C>A	NP_001333828.1:p.Ala244Asp
NM_201283.2:c.866C>A	NP_958440.1:p.Ala289Asp