Canonical Allele Identifier: CA338227638

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1285202
• ClinVar RCV Id: RCV001703290 ; RCV001868396 ; RCV003451853
• dbSNP Id: rs2101541309
• gnomAD v4: 1-17044760-C-T
• MyVariant Identifiers: chr1:g.17371255C>T (hg19) ; chr1:g.17044760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044760C>T , CM000663.2:g.17044760C>T	GRCh38
NC_000001.10:g.17371255C>T , CM000663.1:g.17371255C>T	GRCh37
NC_000001.9:g.17243842C>T	NCBI36
NG_012340.1:g.14411G>A , LRG_316:g.14411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.29+1G>A	ENSP00000481376.2:n.29+1G>A
ENST00000491274.6:c.158+1G>A	ENSP00000480482.2:n.158+1G>A
ENST00000375499.8:c.200+1G>A MANE Select	ENSP00000364649.3:n.200+1G>A
ENST00000375499.7:c.200+1G>A	ENSP00000364649.3:n.200+1G>A
ENST00000463045.2:c.29+1G>A	ENSP00000481376.1:n.29+1G>A
ENST00000466613.2:n.212+1G>A
ENST00000475506.1:n.117+1G>A
ENST00000485515.5:n.188+1G>A
ENST00000491274.5:c.158+1G>A	ENSP00000480482.1:n.158+1G>A
NM_003000.2:c.200+1G>A , LRG_316t1:c.200+1G>A	NP_002991.2:n.200+1G>A
NM_003000.3:c.200+1G>A MANE Select	NP_002991.2:n.200+1G>A