Canonical Allele Identifier: CA2643678124

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2950569
• ClinVar RCV Id: RCV003809879
• dbSNP Id: rs1553177690
• gnomAD v4: 1-17027870-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027870G>A , CM000663.2:g.17027870G>A	GRCh38
NC_000001.10:g.17354365G>A , CM000663.1:g.17354365G>A	GRCh37
NC_000001.9:g.17226952G>A	NCBI36
NG_012340.1:g.31301C>T , LRG_316:g.31301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.253-5C>T	ENSP00000481376.2:n.253-5C>T
ENST00000491274.6:c.382-5C>T	ENSP00000480482.2:n.382-5C>T
ENST00000375499.8:c.424-5C>T MANE Select	ENSP00000364649.3:n.424-5C>T
ENST00000375499.7:c.424-5C>T	ENSP00000364649.3:n.424-5C>T
ENST00000463045.2:c.253-5C>T	ENSP00000481376.1:n.253-5C>T
ENST00000475506.1:n.341-5C>T
ENST00000485515.5:n.358-5C>T
ENST00000491274.5:c.382-5C>T	ENSP00000480482.1:n.382-5C>T
NM_003000.2:c.424-5C>T , LRG_316t1:c.424-5C>T	NP_002991.2:n.424-5C>T
NM_003000.3:c.424-5C>T MANE Select	NP_002991.2:n.424-5C>T