Canonical Allele Identifier: CA18662465

Gene: SDHB

Linked Data

• dbSNP Id: rs969248527
• gnomAD v3: 1-17022984-G-A
• gnomAD v4: 1-17022984-G-A
• MyVariant Identifiers: chr1:g.17349479G>A (hg19) ; chr1:g.17022984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022984G>A , CM000663.2:g.17022984G>A	GRCh38
NC_000001.10:g.17349479G>A , CM000663.1:g.17349479G>A	GRCh37
NC_000001.9:g.17222066G>A	NCBI36
NG_012340.1:g.36187C>T , LRG_316:g.36187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.472-254C>T	ENSP00000481376.2:n.472-254C>T
ENST00000491274.6:c.601-254C>T	ENSP00000480482.2:n.601-254C>T
ENST00000375499.8:c.643-254C>T MANE Select	ENSP00000364649.3:n.643-254C>T
ENST00000375499.7:c.643-254C>T	ENSP00000364649.3:n.643-254C>T
ENST00000475049.5:n.67+110C>T
ENST00000485092.5:n.53C>T
ENST00000485515.5:n.577-254C>T
NM_003000.2:c.643-254C>T , LRG_316t1:c.643-254C>T	NP_002991.2:n.643-254C>T
NM_003000.3:c.643-254C>T MANE Select	NP_002991.2:n.643-254C>T