Canonical Allele Identifier: CA18666339
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs910307058
gnomAD v3: 1-17028293-A-G
gnomAD v4: 1-17028293-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028293A>G , CM000663.2:g.17028293A>G GRCh38
NC_000001.10:g.17354788A>G , CM000663.1:g.17354788A>G GRCh37
NC_000001.9:g.17227375A>G NCBI36
NG_012340.1:g.30878T>C , LRG_316:g.30878T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.252+307T>C ENSP00000481376.2:n.252+307T>C
ENST00000491274.6:c.381+307T>C ENSP00000480482.2:n.381+307T>C
ENST00000375499.8:c.423+307T>C MANE Select ENSP00000364649.3:n.423+307T>C
ENST00000375499.7:c.423+307T>C ENSP00000364649.3:n.423+307T>C
ENST00000463045.2:c.252+307T>C ENSP00000481376.1:n.252+307T>C
ENST00000475506.1:n.340+307T>C
ENST00000485515.5:n.357+361T>C
ENST00000491274.5:c.381+307T>C ENSP00000480482.1:n.381+307T>C
NM_003000.2:c.423+307T>C , LRG_316t1:c.423+307T>C NP_002991.2:n.423+307T>C
NM_003000.3:c.423+307T>C MANE Select NP_002991.2:n.423+307T>C