Canonical Allele Identifier: CA521039173

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1673206
• ClinVar RCV Id: RCV002213668
• dbSNP Id: rs754406155
• gnomAD v2: 1-17354376-A-C
• gnomAD v3: 1-17027881-A-C
• gnomAD v4: 1-17027881-A-C
• MyVariant Identifiers: chr1:g.17354376A>C (hg19) ; chr1:g.17027881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027881A>C , CM000663.2:g.17027881A>C	GRCh38
NC_000001.10:g.17354376A>C , CM000663.1:g.17354376A>C	GRCh37
NC_000001.9:g.17226963A>C	NCBI36
NG_012340.1:g.31290T>G , LRG_316:g.31290T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.253-16T>G	ENSP00000481376.2:n.253-16T>G
ENST00000491274.6:c.382-16T>G	ENSP00000480482.2:n.382-16T>G
ENST00000375499.8:c.424-16T>G MANE Select	ENSP00000364649.3:n.424-16T>G
ENST00000375499.7:c.424-16T>G	ENSP00000364649.3:n.424-16T>G
ENST00000463045.2:c.253-16T>G	ENSP00000481376.1:n.253-16T>G
ENST00000475506.1:n.341-16T>G
ENST00000485515.5:n.358-16T>G
ENST00000491274.5:c.382-16T>G	ENSP00000480482.1:n.382-16T>G
NM_003000.2:c.424-16T>G , LRG_316t1:c.424-16T>G	NP_002991.2:n.424-16T>G
NM_003000.3:c.424-16T>G MANE Select	NP_002991.2:n.424-16T>G