Canonical Allele Identifier: CA374989588
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 439647
dbSNP Id: rs1554813788

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854315A>G , CM000671.2:g.127854315A>G GRCh38
NC_000009.11:g.130616594A>G , CM000671.1:g.130616594A>G GRCh37
NC_000009.10:g.129656415A>G NCBI36
NG_009551.1:g.5454T>C , LRG_589:g.5454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.41T>C MANE Select ENSP00000362299.4:p.Leu14Pro
ENST00000344849.4:c.41T>C ENSP00000341917.3:p.Leu14Pro
ENST00000373203.8:c.41T>C ENSP00000362299.4:p.Leu14Pro
NM_000118.3:c.41T>C , LRG_589t1:c.41T>C NP_000109.1:p.Leu14Pro
NM_001114753.2:c.41T>C , LRG_589t2:c.41T>C NP_001108225.1:p.Leu14Pro
NM_001114753.3:c.41T>C MANE Select NP_001108225.1:p.Leu14Pro