Canonical Allele Identifier: CA338272453

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1037177
• ClinVar RCV Id: RCV001340290
• dbSNP Id: rs2077999285
• gnomAD v4: 1-17027757-C-G
• MyVariant Identifiers: chr1:g.17354252C>G (hg19) ; chr1:g.17027757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027757C>G , CM000663.2:g.17027757C>G	GRCh38
NC_000001.10:g.17354252C>G , CM000663.1:g.17354252C>G	GRCh37
NC_000001.9:g.17226839C>G	NCBI36
NG_012340.1:g.31414G>C , LRG_316:g.31414G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.361G>C	ENSP00000481376.2:p.Glu121Gln
ENST00000491274.6:c.490G>C	ENSP00000480482.2:p.Glu164Gln
ENST00000375499.8:c.532G>C MANE Select	ENSP00000364649.3:p.Glu178Gln
ENST00000375499.7:c.532G>C	ENSP00000364649.3:p.Glu178Gln
ENST00000463045.2:c.361G>C	ENSP00000481376.1:p.Glu121Gln
ENST00000475506.1:n.449G>C
ENST00000485515.5:n.466G>C
ENST00000491274.5:c.490G>C	ENSP00000480482.1:p.Glu164Gln
NM_003000.2:c.532G>C , LRG_316t1:c.532G>C	NP_002991.2:p.Glu178Gln
NM_003000.3:c.532G>C MANE Select	NP_002991.2:p.Glu178Gln