Canonical Allele Identifier: CA5252843

Gene: ENG

Linked Data

• ClinVar Variation Id: 2957089
• ClinVar RCV Id: RCV003818776
• dbSNP Id: rs758647584
• ExAC: 9:130582228 G / A
• gnomAD v2: 9-130582228-G-A
• gnomAD v4: 9-127819949-G-A
• MyVariant Identifiers: chr9:g.130582228G>A (hg19) ; chr9:g.127819949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819949G>A , CM000671.2:g.127819949G>A	GRCh38
NC_000009.11:g.130582228G>A , CM000671.1:g.130582228G>A	GRCh37
NC_000009.10:g.129622049G>A	NCBI36
NG_009551.1:g.39820C>T , LRG_589:g.39820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.677C>T	ENSP00000479015.1:p.Ala226Val
ENST00000373203.9:c.1223C>T MANE Select	ENSP00000362299.4:p.Ala408Val
ENST00000344849.4:c.1223C>T	ENSP00000341917.3:p.Ala408Val
ENST00000373203.8:c.1223C>T	ENSP00000362299.4:p.Ala408Val
ENST00000480266.5:c.677C>T	ENSP00000479015.1:p.Ala226Val
ENST00000486329.1:n.191C>T
NM_000118.3:c.1223C>T , LRG_589t1:c.1223C>T	NP_000109.1:p.Ala408Val
NM_001114753.2:c.1223C>T , LRG_589t2:c.1223C>T	NP_001108225.1:p.Ala408Val
NM_001278138.1:c.677C>T	NP_001265067.1:p.Ala226Val
NR_136302.1:n.1568+1238G>A
NM_001114753.3:c.1223C>T MANE Select	NP_001108225.1:p.Ala408Val
NM_001278138.2:c.677C>T	NP_001265067.1:p.Ala226Val