Canonical Allele Identifier: CA338270306

Gene: SDHB

Linked Data

• dbSNP Id: rs786202913
• gnomAD v2: 1-17349167-A-G
• gnomAD v3: 1-17022672-A-G
• gnomAD v4: 1-17022672-A-G
• MyVariant Identifiers: chr1:g.17349167A>G (hg19) ; chr1:g.17022672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022672A>G , CM000663.2:g.17022672A>G	GRCh38
NC_000001.10:g.17349167A>G , CM000663.1:g.17349167A>G	GRCh37
NC_000001.9:g.17221754A>G	NCBI36
NG_012340.1:g.36499T>C , LRG_316:g.36499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.530T>C	ENSP00000481376.2:p.Leu177Pro
ENST00000491274.6:c.659T>C	ENSP00000480482.2:p.Leu220Pro
ENST00000375499.8:c.701T>C MANE Select	ENSP00000364649.3:p.Leu234Pro
ENST00000375499.7:c.701T>C	ENSP00000364649.3:p.Leu234Pro
ENST00000475049.5:n.126T>C
ENST00000485092.5:n.365T>C
ENST00000485515.5:n.635T>C
NM_003000.2:c.701T>C , LRG_316t1:c.701T>C	NP_002991.2:p.Leu234Pro
NM_003000.3:c.701T>C MANE Select	NP_002991.2:p.Leu234Pro