Canonical Allele Identifier: CA338275116

Gene: SDHB

Linked Data

• ClinVar Variation Id: 966931
• ClinVar RCV Id: RCV001241723
• dbSNP Id: rs74315371
• MyVariant Identifiers: chr1:g.17355216C>G (hg19) ; chr1:g.17028721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028721C>G , CM000663.2:g.17028721C>G	GRCh38
NC_000001.10:g.17355216C>G , CM000663.1:g.17355216C>G	GRCh37
NC_000001.9:g.17227803C>G	NCBI36
NG_012340.1:g.30450G>C , LRG_316:g.30450G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.131G>C	ENSP00000481376.2:p.Cys44Ser
ENST00000491274.6:c.260G>C	ENSP00000480482.2:p.Cys87Ser
ENST00000375499.8:c.302G>C MANE Select	ENSP00000364649.3:p.Cys101Ser
ENST00000375499.7:c.302G>C	ENSP00000364649.3:p.Cys101Ser
ENST00000463045.2:c.131G>C	ENSP00000481376.1:p.Cys44Ser
ENST00000475506.1:n.219G>C
ENST00000485515.5:n.290G>C
ENST00000491274.5:c.260G>C	ENSP00000480482.1:p.Cys87Ser
NM_003000.2:c.302G>C , LRG_316t1:c.302G>C	NP_002991.2:p.Cys101Ser
NM_003000.3:c.302G>C MANE Select	NP_002991.2:p.Cys101Ser