Canonical Allele Identifier: CA1559643

Gene: HADHA

Linked Data

• ClinVar Variation Id: 746477
• ClinVar RCV Id: RCV000923090 ; RCV001271662
• dbSNP Id: rs780178287
• ExAC: 2:26426942 T / C
• gnomAD v2: 2-26426942-T-C
• gnomAD v3: 2-26204073-T-C
• gnomAD v4: 2-26204073-T-C
• MyVariant Identifiers: chr2:g.26426942T>C (hg19) ; chr2:g.26204073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204073T>C , CM000664.2:g.26204073T>C	GRCh38
NC_000002.11:g.26426942T>C , CM000664.1:g.26426942T>C	GRCh37
NC_000002.10:g.26280446T>C	NCBI36
NG_007121.1:g.45548A>G
NG_007121.2:g.45549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1209A>G MANE Select	ENSP00000370023.3:p.Gln403=
ENST00000492433.2:c.1209A>G	ENSP00000438039.2:p.Gln403=
ENST00000643057.1:c.*1100A>G	ENSP00000493761.1:n.*1100A>G
ENST00000643063.1:c.*255A>G	ENSP00000495353.1:n.*255A>G
ENST00000643233.1:c.*1100A>G	ENSP00000493880.1:n.*1100A>G
ENST00000644428.1:c.1209A>G	ENSP00000495560.1:p.Gln403=
ENST00000645274.1:c.1104A>G	ENSP00000493996.1:p.Gln368=
ENST00000646031.1:c.568A>G
ENST00000646483.1:c.1075A>G	ENSP00000496185.1:n.1075A>G
ENST00000380649.7:c.1209A>G	ENSP00000370023.3:p.Gln403=
NM_000182.4:c.1209A>G	NP_000173.2:p.Gln403=
NM_000182.5:c.1209A>G MANE Select	NP_000173.2:p.Gln403=