Canonical Allele Identifier: CA338228226

Gene: SDHB

Linked Data

• ClinVar Variation Id: 646918
• ClinVar RCV Id: RCV000801303 ; RCV002352362
• dbSNP Id: rs1570958090
• MyVariant Identifiers: chr1:g.17371336C>G (hg19) ; chr1:g.17044841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044841C>G , CM000663.2:g.17044841C>G	GRCh38
NC_000001.10:g.17371336C>G , CM000663.1:g.17371336C>G	GRCh37
NC_000001.9:g.17243923C>G	NCBI36
NG_012340.1:g.14330G>C , LRG_316:g.14330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-52G>C	ENSP00000481376.2:n.-52G>C
ENST00000491274.6:c.78G>C	ENSP00000480482.2:p.Lys26Asn
ENST00000375499.8:c.120G>C MANE Select	ENSP00000364649.3:p.Lys40Asn
ENST00000375499.7:c.120G>C	ENSP00000364649.3:p.Lys40Asn
ENST00000463045.2:c.-52G>C	ENSP00000481376.1:n.-52G>C
ENST00000466613.2:n.132G>C
ENST00000475506.1:n.37G>C
ENST00000485515.5:n.108G>C
ENST00000491274.5:c.78G>C	ENSP00000480482.1:p.Lys26Asn
NM_003000.2:c.120G>C , LRG_316t1:c.120G>C	NP_002991.2:p.Lys40Asn
NM_003000.3:c.120G>C MANE Select	NP_002991.2:p.Lys40Asn