Canonical Allele Identifier: CA521039123

Gene: SDHB

Linked Data

• dbSNP Id: rs1373308673
• gnomAD v2: 1-17354238-A-C
• gnomAD v4: 1-17027743-A-C
• MyVariant Identifiers: chr1:g.17354238A>C (hg19) ; chr1:g.17027743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027743A>C , CM000663.2:g.17027743A>C	GRCh38
NC_000001.10:g.17354238A>C , CM000663.1:g.17354238A>C	GRCh37
NC_000001.9:g.17226825A>C	NCBI36
NG_012340.1:g.31428T>G , LRG_316:g.31428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.369+6T>G	ENSP00000481376.2:n.369+6T>G
ENST00000491274.6:c.498+6T>G	ENSP00000480482.2:n.498+6T>G
ENST00000375499.8:c.540+6T>G MANE Select	ENSP00000364649.3:n.540+6T>G
ENST00000375499.7:c.540+6T>G	ENSP00000364649.3:n.540+6T>G
ENST00000475506.1:n.463T>G
ENST00000485515.5:n.474+6T>G
ENST00000491274.5:c.498+6T>G	ENSP00000480482.1:n.498+6T>G
NM_003000.2:c.540+6T>G , LRG_316t1:c.540+6T>G	NP_002991.2:n.540+6T>G
NM_003000.3:c.540+6T>G MANE Select	NP_002991.2:n.540+6T>G