Canonical Allele Identifier: CA338269992

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2941318
• ClinVar RCV Id: RCV003792580
• MyVariant Identifiers: chr1:g.17349111A>G (hg19) ; chr1:g.17022616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022616A>G , CM000663.2:g.17022616A>G	GRCh38
NC_000001.10:g.17349111A>G , CM000663.1:g.17349111A>G	GRCh37
NC_000001.9:g.17221698A>G	NCBI36
NG_012340.1:g.36555T>C , LRG_316:g.36555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.586T>C	ENSP00000481376.2:p.Cys196Arg
ENST00000491274.6:c.715T>C	ENSP00000480482.2:p.Cys239Arg
ENST00000375499.8:c.757T>C MANE Select	ENSP00000364649.3:p.Cys253Arg
ENST00000375499.7:c.757T>C	ENSP00000364649.3:p.Cys253Arg
ENST00000475049.5:n.182T>C
ENST00000485092.5:n.421T>C
ENST00000485515.5:n.691T>C
NM_003000.2:c.757T>C , LRG_316t1:c.757T>C	NP_002991.2:p.Cys253Arg
NM_003000.3:c.757T>C MANE Select	NP_002991.2:p.Cys253Arg