Canonical Allele Identifier: CA5253268
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 374952
dbSNP Id: rs139334561

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854349G>A , CM000671.2:g.127854349G>A GRCh38
NC_000009.11:g.130616628G>A , CM000671.1:g.130616628G>A GRCh37
NC_000009.10:g.129656449G>A NCBI36
NG_009551.1:g.5420C>T , LRG_589:g.5420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.7C>T MANE Select ENSP00000362299.4:p.Arg3Cys
ENST00000344849.4:c.7C>T ENSP00000341917.3:p.Arg3Cys
ENST00000373203.8:c.7C>T ENSP00000362299.4:p.Arg3Cys
NM_000118.3:c.7C>T , LRG_589t1:c.7C>T NP_000109.1:p.Arg3Cys
NM_001114753.2:c.7C>T , LRG_589t2:c.7C>T NP_001108225.1:p.Arg3Cys
NM_001114753.3:c.7C>T MANE Select NP_001108225.1:p.Arg3Cys