Canonical Allele Identifier: CA346128768

Gene: HADHA

Linked Data

• ClinVar Variation Id: 449455
• ClinVar RCV Id: RCV000523677 ; RCV000667154
• dbSNP Id: rs1243779049
• gnomAD v3: 2-26204087-G-A
• gnomAD v4: 2-26204087-G-A
• COSMIC: COSM5354100
• MyVariant Identifiers: chr2:g.26426956G>A (hg19) ; chr2:g.26204087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204087G>A , CM000664.2:g.26204087G>A	GRCh38
NC_000002.11:g.26426956G>A , CM000664.1:g.26426956G>A	GRCh37
NC_000002.10:g.26280460G>A	NCBI36
NG_007121.1:g.45534C>T
NG_007121.2:g.45535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1195C>T MANE Select	ENSP00000370023.3:p.Arg399Ter
ENST00000492433.2:c.1195C>T	ENSP00000438039.2:p.Arg399Ter
ENST00000643057.1:c.*1086C>T	ENSP00000493761.1:n.*1086C>T
ENST00000643063.1:c.*241C>T	ENSP00000495353.1:n.*241C>T
ENST00000643233.1:c.*1086C>T	ENSP00000493880.1:n.*1086C>T
ENST00000644428.1:c.1195C>T	ENSP00000495560.1:p.Arg399Ter
ENST00000645274.1:c.1090C>T	ENSP00000493996.1:p.Arg364Ter
ENST00000646031.1:c.554C>T
ENST00000646483.1:c.1061C>T	ENSP00000496185.1:n.1061C>T
ENST00000380649.7:c.1195C>T	ENSP00000370023.3:p.Arg399Ter
NM_000182.4:c.1195C>T	NP_000173.2:p.Arg399Ter
NM_000182.5:c.1195C>T MANE Select	NP_000173.2:p.Arg399Ter