Canonical Allele Identifier: CA338270924
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 438426
dbSNP Id: rs1278834014
gnomAD v4: 1-17023973-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17023973C>G , CM000663.2:g.17023973C>G GRCh38
NC_000001.10:g.17350468C>G , CM000663.1:g.17350468C>G GRCh37
NC_000001.9:g.17223055C>G NCBI36
NG_012340.1:g.35198G>C , LRG_316:g.35198G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.471G>C ENSP00000481376.2:p.Gln157His
ENST00000491274.6:c.600G>C ENSP00000480482.2:p.Gln200His
ENST00000375499.8:c.642G>C MANE Select ENSP00000364649.3:p.Gln214His
ENST00000375499.7:c.642G>C ENSP00000364649.3:p.Gln214His
ENST00000485515.5:n.576G>C
ENST00000491274.5:c.600G>C ENSP00000480482.1:p.Gln200His
NM_003000.2:c.642G>C , LRG_316t1:c.642G>C NP_002991.2:p.Gln214His
NM_003000.3:c.642G>C MANE Select NP_002991.2:p.Gln214His