Canonical Allele Identifier: CA16612719
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 407131
dbSNP Id: rs1060501418

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854355T>C , CM000671.2:g.127854355T>C GRCh38
NC_000009.11:g.130616634T>C , CM000671.1:g.130616634T>C GRCh37
NC_000009.10:g.129656455T>C NCBI36
NG_009551.1:g.5414A>G , LRG_589:g.5414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.1A>G MANE Select ENSP00000362299.4:p.Met1Val
ENST00000344849.4:c.1A>G ENSP00000341917.3:p.Met1Val
ENST00000373203.8:c.1A>G ENSP00000362299.4:p.Met1Val
NM_000118.3:c.1A>G , LRG_589t1:c.1A>G NP_000109.1:p.Met1Val
NM_001114753.2:c.1A>G , LRG_589t2:c.1A>G NP_001108225.1:p.Met1Val
NM_001114753.3:c.1A>G MANE Select NP_001108225.1:p.Met1Val