Canonical Allele Identifier: CA338228412

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1980681
• ClinVar RCV Id: RCV002761526
• MyVariant Identifiers: chr1:g.17371379G>A (hg19) ; chr1:g.17044884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044884G>A , CM000663.2:g.17044884G>A	GRCh38
NC_000001.10:g.17371379G>A , CM000663.1:g.17371379G>A	GRCh37
NC_000001.9:g.17243966G>A	NCBI36
NG_012340.1:g.14287C>T , LRG_316:g.14287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-95C>T	ENSP00000481376.2:n.-95C>T
ENST00000491274.6:c.35C>T	ENSP00000480482.2:p.Ser12Phe
ENST00000375499.8:c.77C>T MANE Select	ENSP00000364649.3:p.Ser26Phe
ENST00000375499.7:c.77C>T	ENSP00000364649.3:p.Ser26Phe
ENST00000463045.2:c.-95C>T	ENSP00000481376.1:n.-95C>T
ENST00000466613.2:n.89C>T
ENST00000485515.5:n.65C>T
ENST00000491274.5:c.35C>T	ENSP00000480482.1:p.Ser12Phe
NM_003000.2:c.77C>T , LRG_316t1:c.77C>T	NP_002991.2:p.Ser26Phe
NM_003000.3:c.77C>T MANE Select	NP_002991.2:p.Ser26Phe