Canonical Allele Identifier: CA18666294
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs992672696
gnomAD v2: 1-17354683-C-T
gnomAD v3: 1-17028188-C-T
gnomAD v4: 1-17028188-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028188C>T , CM000663.2:g.17028188C>T GRCh38
NC_000001.10:g.17354683C>T , CM000663.1:g.17354683C>T GRCh37
NC_000001.9:g.17227270C>T NCBI36
NG_012340.1:g.30983G>A , LRG_316:g.30983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.253-323G>A ENSP00000481376.2:n.253-323G>A
ENST00000491274.6:c.382-323G>A ENSP00000480482.2:n.382-323G>A
ENST00000375499.8:c.424-323G>A MANE Select ENSP00000364649.3:n.424-323G>A
ENST00000375499.7:c.424-323G>A ENSP00000364649.3:n.424-323G>A
ENST00000463045.2:c.253-323G>A ENSP00000481376.1:n.253-323G>A
ENST00000475506.1:n.341-323G>A
ENST00000485515.5:n.358-323G>A
ENST00000491274.5:c.382-323G>A ENSP00000480482.1:n.382-323G>A
NM_003000.2:c.424-323G>A , LRG_316t1:c.424-323G>A NP_002991.2:n.424-323G>A
NM_003000.3:c.424-323G>A MANE Select NP_002991.2:n.424-323G>A