Canonical Allele Identifier: CA2739391

Gene: EHHADH

Linked Data

• dbSNP Id: rs781744050
• ExAC: 3:184971854 C / A
• gnomAD v2: 3-184971854-C-A
• gnomAD v3: 3-185254066-C-A
• gnomAD v4: 3-185254066-C-A
• MyVariant Identifiers: chr3:g.184971854C>A (hg19) ; chr3:g.185254066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254066C>A , CM000665.2:g.185254066C>A	GRCh38
NC_000003.11:g.184971854C>A , CM000665.1:g.184971854C>A	GRCh37
NC_000003.10:g.186454548C>A	NCBI36
NG_015999.1:g.5033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.7:c.-44G>T	ENSP00000231887.3:n.-44G>T
ENST00000465178.1:n.228-5549G>T
NM_001166415.1:c.-455G>T	NP_001159887.1:n.-455G>T
NM_001966.3:c.-44G>T	NP_001957.2:n.-44G>T
XM_011512517.1:c.-214-5549G>T	XP_011510819.1:n.-214-5549G>T