Canonical Allele Identifier: CA2738920

Gene: EHHADH

Linked Data

• ClinVar Variation Id: 501138
• ClinVar RCV Id: RCV000598312 ; RCV000969464
• dbSNP Id: rs35200935
• ExAC: 3:184910381 C / T
• gnomAD v2: 3-184910381-C-T
• gnomAD v3: 3-185192593-C-T
• gnomAD v4: 3-185192593-C-T
• MyVariant Identifiers: chr3:g.184910381C>T (hg19) ; chr3:g.185192593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185192593C>T , CM000665.2:g.185192593C>T	GRCh38
NC_000003.11:g.184910381C>T , CM000665.1:g.184910381C>T	GRCh37
NC_000003.10:g.186393075C>T	NCBI36
NG_015999.1:g.66506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.1805G>A MANE Select	ENSP00000231887.3:p.Arg602Gln
ENST00000231887.7:c.1805G>A	ENSP00000231887.3:p.Arg602Gln
ENST00000456310.5:c.1517G>A	ENSP00000387746.1:p.Arg506Gln
NM_001166415.1:c.1517G>A	NP_001159887.1:p.Arg506Gln
NM_001966.3:c.1805G>A	NP_001957.2:p.Arg602Gln
XM_006713525.1:c.1181G>A	XP_006713588.1:p.Arg394Gln
XM_011512517.1:c.1517G>A	XP_011510819.1:p.Arg506Gln
NM_001966.4:c.1805G>A MANE Select	NP_001957.2:p.Arg602Gln
NM_001166415.2:c.1517G>A	NP_001159887.1:p.Arg506Gln