Canonical Allele Identifier: CA467474787

Gene: ENG

Linked Data

• ClinVar Variation Id: 1137317
• ClinVar RCV Id: RCV001473270
• dbSNP Id: rs2131887195
• gnomAD v4: 9-127824969-A-G
• MyVariant Identifiers: chr9:g.130587248A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824969A>G , CM000671.2:g.127824969A>G	GRCh38
NC_000009.11:g.130587248A>G , CM000671.1:g.130587248A>G	GRCh37
NC_000009.10:g.129627069A>G	NCBI36
NG_009551.1:g.34800T>C , LRG_589:g.34800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.276T>C	ENSP00000479015.1:p.Thr92=
ENST00000373203.9:c.822T>C MANE Select	ENSP00000362299.4:p.Thr274=
ENST00000344849.4:c.822T>C	ENSP00000341917.3:p.Thr274=
ENST00000373203.8:c.822T>C	ENSP00000362299.4:p.Thr274=
ENST00000480266.5:c.276T>C	ENSP00000479015.1:p.Thr92=
NM_000118.3:c.822T>C , LRG_589t1:c.822T>C	NP_000109.1:p.Thr274=
NM_001114753.2:c.822T>C , LRG_589t2:c.822T>C	NP_001108225.1:p.Thr274=
NM_001278138.1:c.276T>C	NP_001265067.1:p.Thr92=
NM_001114753.3:c.822T>C MANE Select	NP_001108225.1:p.Thr274=
NM_001278138.2:c.276T>C	NP_001265067.1:p.Thr92=