Canonical Allele Identifier: CA18666442

Gene: SDHB

Linked Data

• dbSNP Id: rs566351867
• gnomAD v3: 1-17028428-G-C
• gnomAD v4: 1-17028428-G-C
• MyVariant Identifiers: chr1:g.17354923G>C (hg19) ; chr1:g.17028428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028428G>C , CM000663.2:g.17028428G>C	GRCh38
NC_000001.10:g.17354923G>C , CM000663.1:g.17354923G>C	GRCh37
NC_000001.9:g.17227510G>C	NCBI36
NG_012340.1:g.30743C>G , LRG_316:g.30743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+172C>G	ENSP00000481376.2:n.252+172C>G
ENST00000491274.6:c.381+172C>G	ENSP00000480482.2:n.381+172C>G
ENST00000375499.8:c.423+172C>G MANE Select	ENSP00000364649.3:n.423+172C>G
ENST00000375499.7:c.423+172C>G	ENSP00000364649.3:n.423+172C>G
ENST00000463045.2:c.252+172C>G	ENSP00000481376.1:n.252+172C>G
ENST00000475506.1:n.340+172C>G
ENST00000485515.5:n.357+226C>G
ENST00000491274.5:c.381+172C>G	ENSP00000480482.1:n.381+172C>G
NM_003000.2:c.423+172C>G , LRG_316t1:c.423+172C>G	NP_002991.2:n.423+172C>G
NM_003000.3:c.423+172C>G MANE Select	NP_002991.2:n.423+172C>G