Canonical Allele Identifier: CA200300657
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 914942
ClinVar RCV Id: RCV001169345
dbSNP Id: rs143099696

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815124T>C , CM000671.2:g.127815124T>C GRCh38
NC_000009.11:g.130577403T>C , CM000671.1:g.130577403T>C GRCh37
NC_000009.10:g.129617224T>C NCBI36
NG_009551.1:g.44645A>G , LRG_589:g.44645A>G
NG_023245.1:g.17250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*558A>G ENSP00000479015.1:n.*558A>G
ENST00000373203.9:c.*558A>G MANE Select ENSP00000362299.4:n.*558A>G
ENST00000344849.4:c.*793A>G ENSP00000341917.3:n.*793A>G
ENST00000373203.8:c.*558A>G ENSP00000362299.4:n.*558A>G
ENST00000480266.5:c.*558A>G ENSP00000479015.1:n.*558A>G
NM_000118.3:c.*793A>G , LRG_589t1:c.*793A>G NP_000109.1:n.*793A>G
NM_001114753.2:c.*558A>G , LRG_589t2:c.*558A>G NP_001108225.1:n.*558A>G
NM_001278138.1:c.*558A>G NP_001265067.1:n.*558A>G
NM_001114753.3:c.*558A>G MANE Select NP_001108225.1:n.*558A>G
NM_001278138.2:c.*558A>G NP_001265067.1:n.*558A>G