Canonical Allele Identifier: CA2738854
Gene: EHHADH HGNC NCBI

Linked Data

ClinVar Variation Id: 500329
ClinVar RCV Id: RCV000595988 RCV003945408
dbSNP Id: rs370130327
ExAC: 3:184910092 T / C
gnomAD v2: 3-184910092-T-C
gnomAD v3: 3-185192304-T-C
gnomAD v4: 3-185192304-T-C
MyVariant Identifiers: chr3:g.184910092T>C (hg19) chr3:g.185192304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185192304T>C , CM000665.2:g.185192304T>C GRCh38
NC_000003.11:g.184910092T>C , CM000665.1:g.184910092T>C GRCh37
NC_000003.10:g.186392786T>C NCBI36
NG_015999.1:g.66795A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.2094A>G MANE Select ENSP00000231887.3:p.Leu698=
ENST00000231887.7:c.2094A>G ENSP00000231887.3:p.Leu698=
ENST00000456310.5:c.1806A>G ENSP00000387746.1:p.Leu602=
NM_001166415.1:c.1806A>G NP_001159887.1:p.Leu602=
NM_001966.3:c.2094A>G NP_001957.2:p.Leu698=
XM_006713525.1:c.1470A>G XP_006713588.1:p.Leu490=
XM_011512517.1:c.1806A>G XP_011510819.1:p.Leu602=
NM_001966.4:c.2094A>G MANE Select NP_001957.2:p.Leu698=
NM_001166415.2:c.1806A>G NP_001159887.1:p.Leu602=
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