Canonical Allele Identifier: CA338228143

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2951573
• ClinVar RCV Id: RCV003812260 ; RCV004006075
• dbSNP Id: rs2078100382
• MyVariant Identifiers: chr1:g.17371328G>A (hg19) ; chr1:g.17044833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044833G>A , CM000663.2:g.17044833G>A	GRCh38
NC_000001.10:g.17371328G>A , CM000663.1:g.17371328G>A	GRCh37
NC_000001.9:g.17243915G>A	NCBI36
NG_012340.1:g.14338C>T , LRG_316:g.14338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-44C>T	ENSP00000481376.2:n.-44C>T
ENST00000491274.6:c.86C>T	ENSP00000480482.2:p.Ala29Val
ENST00000375499.8:c.128C>T MANE Select	ENSP00000364649.3:p.Ala43Val
ENST00000375499.7:c.128C>T	ENSP00000364649.3:p.Ala43Val
ENST00000463045.2:c.-44C>T	ENSP00000481376.1:n.-44C>T
ENST00000466613.2:n.140C>T
ENST00000475506.1:n.45C>T
ENST00000485515.5:n.116C>T
ENST00000491274.5:c.86C>T	ENSP00000480482.1:p.Ala29Val
NM_003000.2:c.128C>T , LRG_316t1:c.128C>T	NP_002991.2:p.Ala43Val
NM_003000.3:c.128C>T MANE Select	NP_002991.2:p.Ala43Val