Canonical Allele Identifier: CA18665818

Gene: SDHB

Linked Data

• dbSNP Id: rs899186522
• gnomAD v2: 1-17354173-C-A
• gnomAD v3: 1-17027678-C-A
• gnomAD v4: 1-17027678-C-A
• MyVariant Identifiers: chr1:g.17354173C>A (hg19) ; chr1:g.17027678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027678C>A , CM000663.2:g.17027678C>A	GRCh38
NC_000001.10:g.17354173C>A , CM000663.1:g.17354173C>A	GRCh37
NC_000001.9:g.17226760C>A	NCBI36
NG_012340.1:g.31493G>T , LRG_316:g.31493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.369+71G>T	ENSP00000481376.2:n.369+71G>T
ENST00000491274.6:c.498+71G>T	ENSP00000480482.2:n.498+71G>T
ENST00000375499.8:c.540+71G>T MANE Select	ENSP00000364649.3:n.540+71G>T
ENST00000375499.7:c.540+71G>T	ENSP00000364649.3:n.540+71G>T
ENST00000475506.1:n.528G>T
ENST00000485515.5:n.474+71G>T
ENST00000491274.5:c.498+71G>T	ENSP00000480482.1:n.498+71G>T
NM_003000.2:c.540+71G>T , LRG_316t1:c.540+71G>T	NP_002991.2:n.540+71G>T
NM_003000.3:c.540+71G>T MANE Select	NP_002991.2:n.540+71G>T