Canonical Allele Identifier: CA374984418

Gene: ENG

Linked Data

• ClinVar Variation Id: 429941
• ClinVar RCV Id: RCV000493483 ; RCV003593974
• dbSNP Id: rs750115837
• MyVariant Identifiers: chr9:g.130588938A>T (hg19) ; chr9:g.127826659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826659A>T , CM000671.2:g.127826659A>T	GRCh38
NC_000009.11:g.130588938A>T , CM000671.1:g.130588938A>T	GRCh37
NC_000009.10:g.129628759A>T	NCBI36
NG_009551.1:g.33110T>A , LRG_589:g.33110T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-173T>A	ENSP00000479015.1:n.-173T>A
ENST00000373203.9:c.374T>A MANE Select	ENSP00000362299.4:p.Val125Asp
ENST00000344849.4:c.374T>A	ENSP00000341917.3:p.Val125Asp
ENST00000373203.8:c.374T>A	ENSP00000362299.4:p.Val125Asp
ENST00000462196.1:n.274T>A
ENST00000480266.5:c.-173T>A	ENSP00000479015.1:n.-173T>A
NM_000118.3:c.374T>A , LRG_589t1:c.374T>A	NP_000109.1:p.Val125Asp
NM_001114753.2:c.374T>A , LRG_589t2:c.374T>A	NP_001108225.1:p.Val125Asp
NM_001278138.1:c.-173T>A	NP_001265067.1:n.-173T>A
XR_001746952.2:n.82+1201A>T
NM_001114753.3:c.374T>A MANE Select	NP_001108225.1:p.Val125Asp
NM_001278138.2:c.-173T>A	NP_001265067.1:n.-173T>A