Canonical Allele Identifier: CA5252819
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1361304
ClinVar RCV Id: RCV001907463
dbSNP Id: rs761353511

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819641G>A , CM000671.2:g.127819641G>A GRCh38
NC_000009.11:g.130581920G>A , CM000671.1:g.130581920G>A GRCh37
NC_000009.10:g.129621741G>A NCBI36
NG_009551.1:g.40128C>T , LRG_589:g.40128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.746C>T ENSP00000479015.1:p.Ser249Leu
ENST00000373203.9:c.1292C>T MANE Select ENSP00000362299.4:p.Ser431Leu
ENST00000344849.4:c.1292C>T ENSP00000341917.3:p.Ser431Leu
ENST00000373203.8:c.1292C>T ENSP00000362299.4:p.Ser431Leu
ENST00000480266.5:c.746C>T ENSP00000479015.1:p.Ser249Leu
ENST00000486329.1:n.260C>T
NM_000118.3:c.1292C>T , LRG_589t1:c.1292C>T NP_000109.1:p.Ser431Leu
NM_001114753.2:c.1292C>T , LRG_589t2:c.1292C>T NP_001108225.1:p.Ser431Leu
NM_001278138.1:c.746C>T NP_001265067.1:p.Ser249Leu
NR_136302.1:n.1568+930G>A
NM_001114753.3:c.1292C>T MANE Select NP_001108225.1:p.Ser431Leu
NM_001278138.2:c.746C>T NP_001265067.1:p.Ser249Leu