Canonical Allele Identifier: CA374981778

Gene: ENG

Linked Data

• ClinVar Variation Id: 1719349
• ClinVar RCV Id: RCV002304936
• gnomAD v4: 9-127824446-C-A
• MyVariant Identifiers: chr9:g.130586725C>A (hg19) ; chr9:g.127824446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824446C>A , CM000671.2:g.127824446C>A	GRCh38
NC_000009.11:g.130586725C>A , CM000671.1:g.130586725C>A	GRCh37
NC_000009.10:g.129626546C>A	NCBI36
NG_009551.1:g.35323G>T , LRG_589:g.35323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446G>T	ENSP00000479015.1:p.Gly149Val
ENST00000373203.9:c.992G>T MANE Select	ENSP00000362299.4:p.Gly331Val
ENST00000344849.4:c.992G>T	ENSP00000341917.3:p.Gly331Val
ENST00000373203.8:c.992G>T	ENSP00000362299.4:p.Gly331Val
ENST00000480266.5:c.446G>T	ENSP00000479015.1:p.Gly149Val
NM_000118.3:c.992G>T , LRG_589t1:c.992G>T	NP_000109.1:p.Gly331Val
NM_001114753.2:c.992G>T , LRG_589t2:c.992G>T	NP_001108225.1:p.Gly331Val
NM_001278138.1:c.446G>T	NP_001265067.1:p.Gly149Val
NM_001114753.3:c.992G>T MANE Select	NP_001108225.1:p.Gly331Val
NM_001278138.2:c.446G>T	NP_001265067.1:p.Gly149Val