Canonical Allele Identifier: CA257574

Gene: ENG

Linked Data

• ClinVar Variation Id: 16676
• ClinVar RCV Id: RCV000018156 ; RCV001212827
• dbSNP Id: rs121918402
• MyVariant Identifiers: chr9:g.130591966G>T (hg19) ; chr9:g.127829687G>T (hg38)
• PubMed: PMID:15521985

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829687G>T , CM000671.2:g.127829687G>T	GRCh38
NC_000009.11:g.130591966G>T , CM000671.1:g.130591966G>T	GRCh37
NC_000009.10:g.129631787G>T	NCBI36
NG_009551.1:g.30082C>A , LRG_589:g.30082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187C>A	ENSP00000479015.1:n.-187C>A
ENST00000373203.9:c.360C>A MANE Select	ENSP00000362299.4:p.Tyr120Ter
ENST00000344849.4:c.360C>A	ENSP00000341917.3:p.Tyr120Ter
ENST00000373203.8:c.360C>A	ENSP00000362299.4:p.Tyr120Ter
ENST00000462196.1:n.118C>A
ENST00000480266.5:c.-187C>A	ENSP00000479015.1:n.-187C>A
NM_000118.3:c.360C>A , LRG_589t1:c.360C>A	NP_000109.1:p.Tyr120Ter
NM_001114753.2:c.360C>A , LRG_589t2:c.360C>A	NP_001108225.1:p.Tyr120Ter
NM_001278138.1:c.-187C>A	NP_001265067.1:n.-187C>A
XR_001746952.2:n.83-2711G>T
NM_001114753.3:c.360C>A MANE Select	NP_001108225.1:p.Tyr120Ter
NM_001278138.2:c.-187C>A	NP_001265067.1:n.-187C>A