Canonical Allele Identifier: CA374983441

Gene: ENG

Linked Data

• ClinVar Variation Id: 1001157
• ClinVar RCV Id: RCV001297411 ; RCV002366125
• dbSNP Id: rs1588582073
• MyVariant Identifiers: chr9:g.130587619A>T (hg19) ; chr9:g.127825340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825340A>T , CM000671.2:g.127825340A>T	GRCh38
NC_000009.11:g.130587619A>T , CM000671.1:g.130587619A>T	GRCh37
NC_000009.10:g.129627440A>T	NCBI36
NG_009551.1:g.34429T>A , LRG_589:g.34429T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.161T>A	ENSP00000479015.1:p.Val54Glu
ENST00000373203.9:c.707T>A MANE Select	ENSP00000362299.4:p.Val236Glu
ENST00000344849.4:c.707T>A	ENSP00000341917.3:p.Val236Glu
ENST00000373203.8:c.707T>A	ENSP00000362299.4:p.Val236Glu
ENST00000480266.5:c.161T>A	ENSP00000479015.1:p.Val54Glu
NM_000118.3:c.707T>A , LRG_589t1:c.707T>A	NP_000109.1:p.Val236Glu
NM_001114753.2:c.707T>A , LRG_589t2:c.707T>A	NP_001108225.1:p.Val236Glu
NM_001278138.1:c.161T>A	NP_001265067.1:p.Val54Glu
NM_001114753.3:c.707T>A MANE Select	NP_001108225.1:p.Val236Glu
NM_001278138.2:c.161T>A	NP_001265067.1:p.Val54Glu