Canonical Allele Identifier: CA467231830

Gene: ENG

Linked Data

• ClinVar Variation Id: 810425
• ClinVar RCV Id: RCV000999222 ; RCV002479188
• dbSNP Id: rs1588583668
• gnomAD v4: 9-127826646-C-T
• MyVariant Identifiers: chr9:g.130588925C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826646C>T , CM000671.2:g.127826646C>T	GRCh38
NC_000009.11:g.130588925C>T , CM000671.1:g.130588925C>T	GRCh37
NC_000009.10:g.129628746C>T	NCBI36
NG_009551.1:g.33123G>A , LRG_589:g.33123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-160G>A	ENSP00000479015.1:n.-160G>A
ENST00000373203.9:c.387G>A MANE Select	ENSP00000362299.4:p.Glu129=
ENST00000344849.4:c.387G>A	ENSP00000341917.3:p.Glu129=
ENST00000373203.8:c.387G>A	ENSP00000362299.4:p.Glu129=
ENST00000462196.1:n.287G>A
ENST00000480266.5:c.-160G>A	ENSP00000479015.1:n.-160G>A
NM_000118.3:c.387G>A , LRG_589t1:c.387G>A	NP_000109.1:p.Glu129=
NM_001114753.2:c.387G>A , LRG_589t2:c.387G>A	NP_001108225.1:p.Glu129=
NM_001278138.1:c.-160G>A	NP_001265067.1:n.-160G>A
XR_001746952.2:n.82+1188C>T
NM_001114753.3:c.387G>A MANE Select	NP_001108225.1:p.Glu129=
NM_001278138.2:c.-160G>A	NP_001265067.1:n.-160G>A