Canonical Allele Identifier: CA089744

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459170
• ClinVar RCV Id: RCV000555669 ; RCV002384075
• dbSNP Id: rs768101924
• ExAC: 1:17371383 C / G
• gnomAD v2: 1-17371383-C-G
• gnomAD v3: 1-17044888-C-G
• gnomAD v4: 1-17044888-C-G
• MyVariant Identifiers: chr1:g.17371383C>G (hg19) ; chr1:g.17044888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044888C>G , CM000663.2:g.17044888C>G	GRCh38
NC_000001.10:g.17371383C>G , CM000663.1:g.17371383C>G	GRCh37
NC_000001.9:g.17243970C>G	NCBI36
NG_012340.1:g.14283G>C , LRG_316:g.14283G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.-99G>C	ENSP00000481376.2:n.-99G>C
ENST00000491274.6:c.31G>C	ENSP00000480482.2:p.Ala11Pro
ENST00000375499.8:c.73G>C MANE Select	ENSP00000364649.3:p.Ala25Pro
ENST00000375499.7:c.73G>C	ENSP00000364649.3:p.Ala25Pro
ENST00000463045.2:c.-99G>C	ENSP00000481376.1:n.-99G>C
ENST00000466613.2:n.85G>C
ENST00000485515.5:n.61G>C
ENST00000491274.5:c.31G>C	ENSP00000480482.1:p.Ala11Pro
NM_003000.2:c.73G>C , LRG_316t1:c.73G>C	NP_002991.2:p.Ala25Pro
NM_003000.3:c.73G>C MANE Select	NP_002991.2:p.Ala25Pro