Canonical Allele Identifier: CA18661806

Gene: SDHB

Linked Data

• dbSNP Id: rs997764436
• gnomAD v2: 1-17348735-A-G
• gnomAD v3: 1-17022240-A-G
• gnomAD v4: 1-17022240-A-G
• MyVariant Identifiers: chr1:g.17348735A>G (hg19) ; chr1:g.17022240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022240A>G , CM000663.2:g.17022240A>G	GRCh38
NC_000001.10:g.17348735A>G , CM000663.1:g.17348735A>G	GRCh37
NC_000001.9:g.17221322A>G	NCBI36
NG_012340.1:g.36931T>C , LRG_316:g.36931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+368T>C	ENSP00000481376.2:n.594+368T>C
ENST00000491274.6:c.723+368T>C	ENSP00000480482.2:n.723+368T>C
ENST00000375499.8:c.765+368T>C MANE Select	ENSP00000364649.3:n.765+368T>C
ENST00000375499.7:c.765+368T>C	ENSP00000364649.3:n.765+368T>C
ENST00000475049.5:n.190+368T>C
ENST00000485092.5:n.429+368T>C
NM_003000.2:c.765+368T>C , LRG_316t1:c.765+368T>C	NP_002991.2:n.765+368T>C
NM_003000.3:c.765+368T>C MANE Select	NP_002991.2:n.765+368T>C