Canonical Allele Identifier: CA338273303

Gene: SDHB

Linked Data

• ClinVar Variation Id: 3223010
• ClinVar RCV Id: RCV004508365
• gnomAD v4: 1-17027843-T-G
• MyVariant Identifiers: chr1:g.17354338T>G (hg19) ; chr1:g.17027843T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027843T>G , CM000663.2:g.17027843T>G	GRCh38
NC_000001.10:g.17354338T>G , CM000663.1:g.17354338T>G	GRCh37
NC_000001.9:g.17226925T>G	NCBI36
NG_012340.1:g.31328A>C , LRG_316:g.31328A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.275A>C	ENSP00000481376.2:p.Gln92Pro
ENST00000491274.6:c.404A>C	ENSP00000480482.2:p.Gln135Pro
ENST00000375499.8:c.446A>C MANE Select	ENSP00000364649.3:p.Gln149Pro
ENST00000375499.7:c.446A>C	ENSP00000364649.3:p.Gln149Pro
ENST00000463045.2:c.275A>C	ENSP00000481376.1:p.Gln92Pro
ENST00000475506.1:n.363A>C
ENST00000485515.5:n.380A>C
ENST00000491274.5:c.404A>C	ENSP00000480482.1:p.Gln135Pro
NM_003000.2:c.446A>C , LRG_316t1:c.446A>C	NP_002991.2:p.Gln149Pro
NM_003000.3:c.446A>C MANE Select	NP_002991.2:p.Gln149Pro