Canonical Allele Identifier: CA374985916
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 665710
ClinVar RCV Id: RCV000824049
dbSNP Id: rs1588585880

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829733A>T , CM000671.2:g.127829733A>T GRCh38
NC_000009.11:g.130592012A>T , CM000671.1:g.130592012A>T GRCh37
NC_000009.10:g.129631833A>T NCBI36
NG_009551.1:g.30036T>A , LRG_589:g.30036T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-233T>A ENSP00000479015.1:n.-233T>A
ENST00000373203.9:c.314T>A MANE Select ENSP00000362299.4:p.Val105Asp
ENST00000344849.4:c.314T>A ENSP00000341917.3:p.Val105Asp
ENST00000373203.8:c.314T>A ENSP00000362299.4:p.Val105Asp
ENST00000462196.1:n.72T>A
ENST00000480266.5:c.-233T>A ENSP00000479015.1:n.-233T>A
NM_000118.3:c.314T>A , LRG_589t1:c.314T>A NP_000109.1:p.Val105Asp
NM_001114753.2:c.314T>A , LRG_589t2:c.314T>A NP_001108225.1:p.Val105Asp
NM_001278138.1:c.-233T>A NP_001265067.1:n.-233T>A
XR_001746952.2:n.83-2665A>T
NM_001114753.3:c.314T>A MANE Select NP_001108225.1:p.Val105Asp
NM_001278138.2:c.-233T>A NP_001265067.1:n.-233T>A