Canonical Allele Identifier: CA467230561

Gene: ENG

Linked Data

• ClinVar Variation Id: 458328
• ClinVar RCV Id: RCV000530058 ; RCV001034649 ; RCV001545412 ; RCV002323931 ; RCV003424095
• dbSNP Id: rs1329127701
• gnomAD v2: 9-130586583-C-T
• gnomAD v4: 9-127824304-C-T
• MyVariant Identifiers: chr9:g.130586583C>T (hg19) ; chr9:g.127824304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824304C>T , CM000671.2:g.127824304C>T	GRCh38
NC_000009.11:g.130586583C>T , CM000671.1:g.130586583C>T	GRCh37
NC_000009.10:g.129626404C>T	NCBI36
NG_009551.1:g.35465G>A , LRG_589:g.35465G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.588G>A	ENSP00000479015.1:p.Ala196=
ENST00000373203.9:c.1134G>A MANE Select	ENSP00000362299.4:p.Ala378=
ENST00000344849.4:c.1134G>A	ENSP00000341917.3:p.Ala378=
ENST00000373203.8:c.1134G>A	ENSP00000362299.4:p.Ala378=
ENST00000480266.5:c.588G>A	ENSP00000479015.1:p.Ala196=
ENST00000486329.1:n.102G>A
NM_000118.3:c.1134G>A , LRG_589t1:c.1134G>A	NP_000109.1:p.Ala378=
NM_001114753.2:c.1134G>A , LRG_589t2:c.1134G>A	NP_001108225.1:p.Ala378=
NM_001278138.1:c.588G>A	NP_001265067.1:p.Ala196=
NM_001114753.3:c.1134G>A MANE Select	NP_001108225.1:p.Ala378=
NM_001278138.2:c.588G>A	NP_001265067.1:p.Ala196=