Canonical Allele Identifier: CA548429241

Gene: EHHADH

Linked Data

• dbSNP Id: rs1334640260
• gnomAD v2: 3-184972121-GC-G
• gnomAD v3: 3-185254333-GC-G
• gnomAD v4: 3-185254333-GC-G
• MyVariant Identifiers: chr3:g.184972122del (hg19) ; chr3:g.185254334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254334del , CM000665.2:g.185254334del	GRCh38
NC_000003.11:g.184972122del , CM000665.1:g.184972122del	GRCh37
NC_000003.10:g.186454816del	NCBI36
NG_015999.1:g.4765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5817del
XM_011512517.1:c.-214-5817del	XP_011510819.1:n.-214-5817del