Canonical Allele Identifier: CA089567

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1580145
• ClinVar RCV Id: RCV002093588
• dbSNP Id: rs747263813
• ExAC: 1:17355243 A / G
• gnomAD v2: 1-17355243-A-G
• gnomAD v4: 1-17028748-A-G
• MyVariant Identifiers: chr1:g.17355243A>G (hg19) ; chr1:g.17028748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028748A>G , CM000663.2:g.17028748A>G	GRCh38
NC_000001.10:g.17355243A>G , CM000663.1:g.17355243A>G	GRCh37
NC_000001.9:g.17227830A>G	NCBI36
NG_012340.1:g.30423T>C , LRG_316:g.30423T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.116-12T>C	ENSP00000481376.2:n.116-12T>C
ENST00000491274.6:c.245-12T>C	ENSP00000480482.2:n.245-12T>C
ENST00000375499.8:c.287-12T>C MANE Select	ENSP00000364649.3:n.287-12T>C
ENST00000375499.7:c.287-12T>C	ENSP00000364649.3:n.287-12T>C
ENST00000463045.2:c.116-12T>C	ENSP00000481376.1:n.116-12T>C
ENST00000475506.1:n.204-12T>C
ENST00000485515.5:n.275-12T>C
ENST00000491274.5:c.245-12T>C	ENSP00000480482.1:n.245-12T>C
NM_003000.2:c.287-12T>C , LRG_316t1:c.287-12T>C	NP_002991.2:n.287-12T>C
NM_003000.3:c.287-12T>C MANE Select	NP_002991.2:n.287-12T>C