Canonical Allele Identifier: CA1560506

Gene: HADHB

Linked Data

• ClinVar Variation Id: 1217468
• ClinVar RCV Id: RCV001588141 ; RCV001882729
• dbSNP Id: rs375329638
• ExAC: 2:26508339 T / C
• gnomAD v2: 2-26508339-T-C
• gnomAD v3: 2-26285471-T-C
• gnomAD v4: 2-26285471-T-C
• MyVariant Identifiers: chr2:g.26508339T>C (hg19) ; chr2:g.26285471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285471T>C , CM000664.2:g.26285471T>C	GRCh38
NC_000002.11:g.26508339T>C , CM000664.1:g.26508339T>C	GRCh37
NC_000002.10:g.26361843T>C	NCBI36
NG_007294.1:g.45519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1289T>C MANE Select	ENSP00000325136.5:p.Phe430Ser
ENST00000317799.9:c.1289T>C	ENSP00000325136.5:p.Phe430Ser
ENST00000405867.7:c.920T>C	ENSP00000385411.3:p.Phe307Ser
ENST00000494615.1:n.2236T>C
ENST00000537713.5:c.1244T>C	ENSP00000444295.1:p.Phe415Ser
ENST00000545822.2:c.1223T>C	ENSP00000442665.1:p.Phe408Ser
NM_000183.2:c.1289T>C	NP_000174.1:p.Phe430Ser
NM_001281512.1:c.1244T>C	NP_001268441.1:p.Phe415Ser
NM_001281513.1:c.1223T>C	NP_001268442.1:p.Phe408Ser
XM_011532803.1:c.1289T>C	XP_011531105.1:p.Phe430Ser
XM_011532804.1:c.1223T>C	XP_011531106.1:p.Phe408Ser
XM_024452830.1:c.1259T>C	XP_024308598.1:p.Phe420Ser
XM_024452831.1:c.1223T>C	XP_024308599.1:p.Phe408Ser
NM_000183.3:c.1289T>C MANE Select	NP_000174.1:p.Phe430Ser
NM_001281513.2:c.1223T>C	NP_001268442.1:p.Phe408Ser
NM_001281512.2:c.1244T>C	NP_001268441.1:p.Phe415Ser