Canonical Allele Identifier: CA467230819
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 435059
ClinVar RCV Id: RCV000502845
dbSNP Id: rs1554810058

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824391A>G , CM000671.2:g.127824391A>G GRCh38
NC_000009.11:g.130586670A>G , CM000671.1:g.130586670A>G GRCh37
NC_000009.10:g.129626491A>G NCBI36
NG_009551.1:g.35378T>C , LRG_589:g.35378T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.501T>C ENSP00000479015.1:p.Thr167=
ENST00000373203.9:c.1047T>C MANE Select ENSP00000362299.4:p.Thr349=
ENST00000344849.4:c.1047T>C ENSP00000341917.3:p.Thr349=
ENST00000373203.8:c.1047T>C ENSP00000362299.4:p.Thr349=
ENST00000480266.5:c.501T>C ENSP00000479015.1:p.Thr167=
ENST00000486329.1:n.15T>C
NM_000118.3:c.1047T>C , LRG_589t1:c.1047T>C NP_000109.1:p.Thr349=
NM_001114753.2:c.1047T>C , LRG_589t2:c.1047T>C NP_001108225.1:p.Thr349=
NM_001278138.1:c.501T>C NP_001265067.1:p.Thr167=
NM_001114753.3:c.1047T>C MANE Select NP_001108225.1:p.Thr349=
NM_001278138.2:c.501T>C NP_001265067.1:p.Thr167=