Canonical Allele Identifier: CA18659675
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs1047132046
gnomAD v2: 1-17345262-T-G
gnomAD v3: 1-17018767-T-G
gnomAD v4: 1-17018767-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17018767T>G , CM000663.2:g.17018767T>G GRCh38
NC_000001.10:g.17345262T>G , CM000663.1:g.17345262T>G GRCh37
NC_000001.9:g.17217849T>G NCBI36
NG_012340.1:g.40404A>C , LRG_316:g.40404A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.*114A>C ENSP00000481376.2:n.*114A>C
ENST00000491274.6:c.*114A>C ENSP00000480482.2:n.*114A>C
ENST00000375499.8:c.*114A>C MANE Select ENSP00000364649.3:n.*114A>C
ENST00000375499.7:c.*114A>C ENSP00000364649.3:n.*114A>C
ENST00000475049.5:n.382A>C
ENST00000485092.5:n.621A>C
NM_003000.2:c.*114A>C , LRG_316t1:c.*114A>C NP_002991.2:n.*114A>C
NM_003000.3:c.*114A>C MANE Select NP_002991.2:n.*114A>C