Canonical Allele Identifier: CA2738956
Gene: EHHADH HGNC NCBI

Linked Data

ClinVar Variation Id: 500385
ClinVar RCV Id: RCV000592984 RCV003915721
dbSNP Id: rs138858065
ExAC: 3:184910623 C / T
gnomAD v2: 3-184910623-C-T
gnomAD v3: 3-185192835-C-T
gnomAD v4: 3-185192835-C-T
MyVariant Identifiers: chr3:g.184910623C>T (hg19) chr3:g.185192835C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185192835C>T , CM000665.2:g.185192835C>T GRCh38
NC_000003.11:g.184910623C>T , CM000665.1:g.184910623C>T GRCh37
NC_000003.10:g.186393317C>T NCBI36
NG_015999.1:g.66264G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.1563G>A MANE Select ENSP00000231887.3:p.Val521=
ENST00000231887.7:c.1563G>A ENSP00000231887.3:p.Val521=
ENST00000456310.5:c.1275G>A ENSP00000387746.1:p.Val425=
NM_001166415.1:c.1275G>A NP_001159887.1:p.Val425=
NM_001966.3:c.1563G>A NP_001957.2:p.Val521=
XM_006713525.1:c.939G>A XP_006713588.1:p.Val313=
XM_011512517.1:c.1275G>A XP_011510819.1:p.Val425=
NM_001966.4:c.1563G>A MANE Select NP_001957.2:p.Val521=
NM_001166415.2:c.1275G>A NP_001159887.1:p.Val425=
Search 100 bp 5'
Search 100 bp 3'