Canonical Allele Identifier: CA890984761

Gene: SDHB

Linked Data

• dbSNP Id: rs1456346837
• gnomAD v3: 1-17022333-T-C
• gnomAD v4: 1-17022333-T-C
• MyVariant Identifiers: chr1:g.17348828T>C (hg19) ; chr1:g.17022333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022333T>C , CM000663.2:g.17022333T>C	GRCh38
NC_000001.10:g.17348828T>C , CM000663.1:g.17348828T>C	GRCh37
NC_000001.9:g.17221415T>C	NCBI36
NG_012340.1:g.36838A>G , LRG_316:g.36838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+275A>G	ENSP00000481376.2:n.594+275A>G
ENST00000491274.6:c.723+275A>G	ENSP00000480482.2:n.723+275A>G
ENST00000375499.8:c.765+275A>G MANE Select	ENSP00000364649.3:n.765+275A>G
ENST00000375499.7:c.765+275A>G	ENSP00000364649.3:n.765+275A>G
ENST00000475049.5:n.190+275A>G
ENST00000485092.5:n.429+275A>G
NM_003000.2:c.765+275A>G , LRG_316t1:c.765+275A>G	NP_002991.2:n.765+275A>G
NM_003000.3:c.765+275A>G MANE Select	NP_002991.2:n.765+275A>G