Canonical Allele Identifier: CA4266106

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1063123
• ClinVar RCV Id: RCV001372930
• dbSNP Id: rs772091823
• ExAC: 7:55259437 G / A
• gnomAD v2: 7-55259437-G-A
• gnomAD v3: 7-55191744-G-A
• gnomAD v4: 7-55191744-G-A
• COSMIC: COSM3366978
• MyVariant Identifiers: chr7:g.55259437G>A (hg19) ; chr7:g.55191744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191744G>A , CM000669.2:g.55191744G>A	GRCh38
NC_000007.13:g.55259437G>A , CM000669.1:g.55259437G>A	GRCh37
NC_000007.12:g.55226931G>A	NCBI36
NG_007726.3:g.177713G>A , LRG_304:g.177713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2336G>A	ENSP00000413354.2:p.Arg779His
ENST00000700145.1:c.844G>A
ENST00000275493.7:c.2495G>A MANE Select	ENSP00000275493.2:p.Arg832His
ENST00000275493.6:c.2495G>A	ENSP00000275493.2:p.Arg832His
ENST00000442591.5:c.*28+18816G>A	ENSP00000410031.1:n.*28+18816G>A
ENST00000454757.6:c.2360G>A	ENSP00000395243.3:p.Arg787His
ENST00000455089.5:c.2360G>A	ENSP00000415559.1:p.Arg787His
NM_005228.3:c.2495G>A , LRG_304t1:c.2495G>A	NP_005219.2:p.Arg832His
NM_001346897.1:c.2360G>A	NP_001333826.1:p.Arg787His
NM_001346898.1:c.2495G>A	NP_001333827.1:p.Arg832His
NM_001346899.1:c.2360G>A	NP_001333828.1:p.Arg787His
NM_001346900.1:c.2336G>A	NP_001333829.1:p.Arg779His
NM_001346941.1:c.1694G>A	NP_001333870.1:p.Arg565His
NM_005228.4:c.2495G>A	NP_005219.2:p.Arg832His
NM_005228.5:c.2495G>A MANE Select	NP_005219.2:p.Arg832His
NM_001346897.2:c.2360G>A	NP_001333826.1:p.Arg787His
NM_001346898.2:c.2495G>A	NP_001333827.1:p.Arg832His
NM_001346900.2:c.2336G>A	NP_001333829.1:p.Arg779His
NM_001346941.2:c.1694G>A	NP_001333870.1:p.Arg565His
NM_001346899.2:c.2360G>A	NP_001333828.1:p.Arg787His