Canonical Allele Identifier: CA089634

Gene: SDHB

Linked Data

• dbSNP Id: rs747984404
• ExAC: 1:17354293 T / C
• gnomAD v2: 1-17354293-T-C
• gnomAD v3: 1-17027798-T-C
• gnomAD v4: 1-17027798-T-C
• MyVariant Identifiers: chr1:g.17354293T>C (hg19) ; chr1:g.17027798T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027798T>C , CM000663.2:g.17027798T>C	GRCh38
NC_000001.10:g.17354293T>C , CM000663.1:g.17354293T>C	GRCh37
NC_000001.9:g.17226880T>C	NCBI36
NG_012340.1:g.31373A>G , LRG_316:g.31373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.320A>G	ENSP00000481376.2:p.Gln107Arg
ENST00000491274.6:c.449A>G	ENSP00000480482.2:p.Gln150Arg
ENST00000375499.8:c.491A>G MANE Select	ENSP00000364649.3:p.Gln164Arg
ENST00000375499.7:c.491A>G	ENSP00000364649.3:p.Gln164Arg
ENST00000463045.2:c.320A>G	ENSP00000481376.1:p.Gln107Arg
ENST00000475506.1:n.408A>G
ENST00000485515.5:n.425A>G
ENST00000491274.5:c.449A>G	ENSP00000480482.1:p.Gln150Arg
NM_003000.2:c.491A>G , LRG_316t1:c.491A>G	NP_002991.2:p.Gln164Arg
NM_003000.3:c.491A>G MANE Select	NP_002991.2:p.Gln164Arg