Canonical Allele Identifier: CA18661736

Gene: SDHB

Linked Data

• dbSNP Id: rs577755157
• gnomAD v2: 1-17348630-C-T
• gnomAD v3: 1-17022135-C-T
• gnomAD v4: 1-17022135-C-T
• MyVariant Identifiers: chr1:g.17348630C>T (hg19) ; chr1:g.17022135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022135C>T , CM000663.2:g.17022135C>T	GRCh38
NC_000001.10:g.17348630C>T , CM000663.1:g.17348630C>T	GRCh37
NC_000001.9:g.17221217C>T	NCBI36
NG_012340.1:g.37036G>A , LRG_316:g.37036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+473G>A	ENSP00000481376.2:n.594+473G>A
ENST00000491274.6:c.723+473G>A	ENSP00000480482.2:n.723+473G>A
ENST00000375499.8:c.765+473G>A MANE Select	ENSP00000364649.3:n.765+473G>A
ENST00000375499.7:c.765+473G>A	ENSP00000364649.3:n.765+473G>A
ENST00000475049.5:n.190+473G>A
ENST00000485092.5:n.429+473G>A
NM_003000.2:c.765+473G>A , LRG_316t1:c.765+473G>A	NP_002991.2:n.765+473G>A
NM_003000.3:c.765+473G>A MANE Select	NP_002991.2:n.765+473G>A