Canonical Allele Identifier: CA338270078

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1472223
• ClinVar RCV Id: RCV002002845
• dbSNP Id: rs2077968110
• MyVariant Identifiers: chr1:g.17349127C>G (hg19) ; chr1:g.17022632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022632C>G , CM000663.2:g.17022632C>G	GRCh38
NC_000001.10:g.17349127C>G , CM000663.1:g.17349127C>G	GRCh37
NC_000001.9:g.17221714C>G	NCBI36
NG_012340.1:g.36539G>C , LRG_316:g.36539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.570G>C	ENSP00000481376.2:p.Met190Ile
ENST00000491274.6:c.699G>C	ENSP00000480482.2:p.Met233Ile
ENST00000375499.8:c.741G>C MANE Select	ENSP00000364649.3:p.Met247Ile
ENST00000375499.7:c.741G>C	ENSP00000364649.3:p.Met247Ile
ENST00000475049.5:n.166G>C
ENST00000485092.5:n.405G>C
ENST00000485515.5:n.675G>C
NM_003000.2:c.741G>C , LRG_316t1:c.741G>C	NP_002991.2:p.Met247Ile
NM_003000.3:c.741G>C MANE Select	NP_002991.2:p.Met247Ile