Canonical Allele Identifier: CA548429196

Gene: EHHADH

Linked Data

• dbSNP Id: rs1382708242
• gnomAD v2: 3-184972009-C-G
• gnomAD v3: 3-185254221-C-G
• gnomAD v4: 3-185254221-C-G
• MyVariant Identifiers: chr3:g.184972009C>G (hg19) ; chr3:g.185254221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254221C>G , CM000665.2:g.185254221C>G	GRCh38
NC_000003.11:g.184972009C>G , CM000665.1:g.184972009C>G	GRCh37
NC_000003.10:g.186454703C>G	NCBI36
NG_015999.1:g.4878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5704G>C
XM_011512517.1:c.-214-5704G>C	XP_011510819.1:n.-214-5704G>C