Canonical Allele Identifier: CA374989708
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 458346
dbSNP Id: rs267606783

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854354A>C , CM000671.2:g.127854354A>C GRCh38
NC_000009.11:g.130616633A>C , CM000671.1:g.130616633A>C GRCh37
NC_000009.10:g.129656454A>C NCBI36
NG_009551.1:g.5415T>G , LRG_589:g.5415T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.2T>G MANE Select ENSP00000362299.4:p.Met1Arg
ENST00000344849.4:c.2T>G ENSP00000341917.3:p.Met1Arg
ENST00000373203.8:c.2T>G ENSP00000362299.4:p.Met1Arg
NM_000118.3:c.2T>G , LRG_589t1:c.2T>G NP_000109.1:p.Met1Arg
NM_001114753.2:c.2T>G , LRG_589t2:c.2T>G NP_001108225.1:p.Met1Arg
NM_001114753.3:c.2T>G MANE Select NP_001108225.1:p.Met1Arg