Canonical Allele Identifier: CA338228190

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1762808
• ClinVar RCV Id: RCV002430319 ; RCV003103490
• MyVariant Identifiers: chr1:g.17371331A>G (hg19) ; chr1:g.17044836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044836A>G , CM000663.2:g.17044836A>G	GRCh38
NC_000001.10:g.17371331A>G , CM000663.1:g.17371331A>G	GRCh37
NC_000001.9:g.17243918A>G	NCBI36
NG_012340.1:g.14335T>C , LRG_316:g.14335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-47T>C	ENSP00000481376.2:n.-47T>C
ENST00000491274.6:c.83T>C	ENSP00000480482.2:p.Phe28Ser
ENST00000375499.8:c.125T>C MANE Select	ENSP00000364649.3:p.Phe42Ser
ENST00000375499.7:c.125T>C	ENSP00000364649.3:p.Phe42Ser
ENST00000463045.2:c.-47T>C	ENSP00000481376.1:n.-47T>C
ENST00000466613.2:n.137T>C
ENST00000475506.1:n.42T>C
ENST00000485515.5:n.113T>C
ENST00000491274.5:c.83T>C	ENSP00000480482.1:p.Phe28Ser
NM_003000.2:c.125T>C , LRG_316t1:c.125T>C	NP_002991.2:p.Phe42Ser
NM_003000.3:c.125T>C MANE Select	NP_002991.2:p.Phe42Ser