Canonical Allele Identifier: CA999084490
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs1006733400
gnomAD v3: 1-17028380-G-A
gnomAD v4: 1-17028380-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028380G>A , CM000663.2:g.17028380G>A GRCh38
NC_000001.10:g.17354875G>A , CM000663.1:g.17354875G>A GRCh37
NC_000001.9:g.17227462G>A NCBI36
NG_012340.1:g.30791C>T , LRG_316:g.30791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.252+220C>T ENSP00000481376.2:n.252+220C>T
ENST00000491274.6:c.381+220C>T ENSP00000480482.2:n.381+220C>T
ENST00000375499.8:c.423+220C>T MANE Select ENSP00000364649.3:n.423+220C>T
ENST00000375499.7:c.423+220C>T ENSP00000364649.3:n.423+220C>T
ENST00000463045.2:c.252+220C>T ENSP00000481376.1:n.252+220C>T
ENST00000475506.1:n.340+220C>T
ENST00000485515.5:n.357+274C>T
ENST00000491274.5:c.381+220C>T ENSP00000480482.1:n.381+220C>T
NM_003000.2:c.423+220C>T , LRG_316t1:c.423+220C>T NP_002991.2:n.423+220C>T
NM_003000.3:c.423+220C>T MANE Select NP_002991.2:n.423+220C>T