Canonical Allele Identifier: CA338275124

Gene: SDHB

Linked Data

• ClinVar Variation Id: 486417
• ClinVar RCV Id: RCV000566270 ; RCV000590918 ; RCV000687053 ; RCV001095843 ; RCV001775900
• dbSNP Id: rs121917755
• gnomAD v2: 1-17355219-G-C
• gnomAD v4: 1-17028724-G-C
• MyVariant Identifiers: chr1:g.17355219G>C (hg19) ; chr1:g.17028724G>C (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028724G>C , CM000663.2:g.17028724G>C	GRCh38
NC_000001.10:g.17355219G>C , CM000663.1:g.17355219G>C	GRCh37
NC_000001.9:g.17227806G>C	NCBI36
NG_012340.1:g.30447C>G , LRG_316:g.30447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.128C>G	ENSP00000481376.2:p.Ser43Cys
ENST00000491274.6:c.257C>G	ENSP00000480482.2:p.Ser86Cys
ENST00000375499.8:c.299C>G MANE Select	ENSP00000364649.3:p.Ser100Cys
ENST00000375499.7:c.299C>G	ENSP00000364649.3:p.Ser100Cys
ENST00000463045.2:c.128C>G	ENSP00000481376.1:p.Ser43Cys
ENST00000475506.1:n.216C>G
ENST00000485515.5:n.287C>G
ENST00000491274.5:c.257C>G	ENSP00000480482.1:p.Ser86Cys
NM_003000.2:c.299C>G , LRG_316t1:c.299C>G	NP_002991.2:p.Ser100Cys
NM_003000.3:c.299C>G MANE Select	NP_002991.2:p.Ser100Cys