Canonical Allele Identifier: CA5253162

Gene: ENG

Linked Data

• ClinVar Variation Id: 2659516
• ClinVar RCV Id: RCV003430257
• dbSNP Id: rs751531848
• ExAC: 9:130592007 G / A
• gnomAD v2: 9-130592007-G-A
• gnomAD v4: 9-127829728-G-A
• MyVariant Identifiers: chr9:g.130592007G>A (hg19) ; chr9:g.127829728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829728G>A , CM000671.2:g.127829728G>A	GRCh38
NC_000009.11:g.130592007G>A , CM000671.1:g.130592007G>A	GRCh37
NC_000009.10:g.129631828G>A	NCBI36
NG_009551.1:g.30041C>T , LRG_589:g.30041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-228C>T	ENSP00000479015.1:n.-228C>T
ENST00000373203.9:c.319C>T MANE Select	ENSP00000362299.4:p.Leu107=
ENST00000344849.4:c.319C>T	ENSP00000341917.3:p.Leu107=
ENST00000373203.8:c.319C>T	ENSP00000362299.4:p.Leu107=
ENST00000462196.1:n.77C>T
ENST00000480266.5:c.-228C>T	ENSP00000479015.1:n.-228C>T
NM_000118.3:c.319C>T , LRG_589t1:c.319C>T	NP_000109.1:p.Leu107=
NM_001114753.2:c.319C>T , LRG_589t2:c.319C>T	NP_001108225.1:p.Leu107=
NM_001278138.1:c.-228C>T	NP_001265067.1:n.-228C>T
XR_001746952.2:n.83-2670G>A
NM_001114753.3:c.319C>T MANE Select	NP_001108225.1:p.Leu107=
NM_001278138.2:c.-228C>T	NP_001265067.1:n.-228C>T