Canonical Allele Identifier: CA18662463
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs775845700
gnomAD v2: 1-17349475-C-G
gnomAD v3: 1-17022980-C-G
gnomAD v4: 1-17022980-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022980C>G , CM000663.2:g.17022980C>G GRCh38
NC_000001.10:g.17349475C>G , CM000663.1:g.17349475C>G GRCh37
NC_000001.9:g.17222062C>G NCBI36
NG_012340.1:g.36191G>C , LRG_316:g.36191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.472-250G>C ENSP00000481376.2:n.472-250G>C
ENST00000491274.6:c.601-250G>C ENSP00000480482.2:n.601-250G>C
ENST00000375499.8:c.643-250G>C MANE Select ENSP00000364649.3:n.643-250G>C
ENST00000375499.7:c.643-250G>C ENSP00000364649.3:n.643-250G>C
ENST00000475049.5:n.67+114G>C
ENST00000485092.5:n.57G>C
ENST00000485515.5:n.577-250G>C
NM_003000.2:c.643-250G>C , LRG_316t1:c.643-250G>C NP_002991.2:n.643-250G>C
NM_003000.3:c.643-250G>C MANE Select NP_002991.2:n.643-250G>C