Canonical Allele Identifier: CA367584227

Gene: EGFR

Linked Data

• dbSNP Id: rs2128954891
• gnomAD v4: 7-55174812-A-G
• MyVariant Identifiers: chr7:g.55242505A>G (hg19) ; chr7:g.55174812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174812A>G , CM000669.2:g.55174812A>G	GRCh38
NC_000007.13:g.55242505A>G , CM000669.1:g.55242505A>G	GRCh37
NC_000007.12:g.55209999A>G	NCBI36
NG_007726.3:g.160781A>G , LRG_304:g.160781A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2116A>G	ENSP00000413354.2:p.Ile706Val
ENST00000700145.1:c.624A>G
ENST00000275493.7:c.2275A>G MANE Select	ENSP00000275493.2:p.Ile759Val
ENST00000275493.6:c.2275A>G	ENSP00000275493.2:p.Ile759Val
ENST00000442591.5:c.*28+1884A>G	ENSP00000410031.1:n.*28+1884A>G
ENST00000454757.6:c.2140A>G	ENSP00000395243.3:p.Ile714Val
ENST00000455089.5:c.2140A>G	ENSP00000415559.1:p.Ile714Val
NM_005228.3:c.2275A>G , LRG_304t1:c.2275A>G	NP_005219.2:p.Ile759Val
NM_001346897.1:c.2140A>G	NP_001333826.1:p.Ile714Val
NM_001346898.1:c.2275A>G	NP_001333827.1:p.Ile759Val
NM_001346899.1:c.2140A>G	NP_001333828.1:p.Ile714Val
NM_001346900.1:c.2116A>G	NP_001333829.1:p.Ile706Val
NM_001346941.1:c.1474A>G	NP_001333870.1:p.Ile492Val
NM_005228.4:c.2275A>G	NP_005219.2:p.Ile759Val
NM_005228.5:c.2275A>G MANE Select	NP_005219.2:p.Ile759Val
NM_001346897.2:c.2140A>G	NP_001333826.1:p.Ile714Val
NM_001346898.2:c.2275A>G	NP_001333827.1:p.Ile759Val
NM_001346900.2:c.2116A>G	NP_001333829.1:p.Ile706Val
NM_001346941.2:c.1474A>G	NP_001333870.1:p.Ile492Val
NM_001346899.2:c.2140A>G	NP_001333828.1:p.Ile714Val