Canonical Allele Identifier: CA2580079596
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1970257
ClinVar RCV Id: RCV002730443
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854472G>A , CM000671.2:g.127854472G>A GRCh38
NC_000009.11:g.130616751G>A , CM000671.1:g.130616751G>A GRCh37
NC_000009.10:g.129656572G>A NCBI36
NG_009551.1:g.5297C>T , LRG_589:g.5297C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-117C>T MANE Select ENSP00000362299.4:n.-117C>T
ENST00000344849.4:c.-117C>T ENSP00000341917.3:n.-117C>T
ENST00000373203.8:c.-117C>T ENSP00000362299.4:n.-117C>T
NM_000118.3:c.-117C>T , LRG_589t1:c.-117C>T NP_000109.1:n.-117C>T
NM_001114753.2:c.-117C>T , LRG_589t2:c.-117C>T NP_001108225.1:n.-117C>T
NM_001114753.3:c.-117C>T MANE Select NP_001108225.1:n.-117C>T
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