Canonical Allele Identifier: CA338228018

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2948912
• ClinVar RCV Id: RCV003801638
• dbSNP Id: rs2078100131
• MyVariant Identifiers: chr1:g.17371310G>T (hg19) ; chr1:g.17044815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044815G>T , CM000663.2:g.17044815G>T	GRCh38
NC_000001.10:g.17371310G>T , CM000663.1:g.17371310G>T	GRCh37
NC_000001.9:g.17243897G>T	NCBI36
NG_012340.1:g.14356C>A , LRG_316:g.14356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-26C>A	ENSP00000481376.2:n.-26C>A
ENST00000491274.6:c.104C>A	ENSP00000480482.2:p.Pro35Gln
ENST00000375499.8:c.146C>A MANE Select	ENSP00000364649.3:p.Pro49Gln
ENST00000375499.7:c.146C>A	ENSP00000364649.3:p.Pro49Gln
ENST00000463045.2:c.-26C>A	ENSP00000481376.1:n.-26C>A
ENST00000466613.2:n.158C>A
ENST00000475506.1:n.63C>A
ENST00000485515.5:n.134C>A
ENST00000491274.5:c.104C>A	ENSP00000480482.1:p.Pro35Gln
NM_003000.2:c.146C>A , LRG_316t1:c.146C>A	NP_002991.2:p.Pro49Gln
NM_003000.3:c.146C>A MANE Select	NP_002991.2:p.Pro49Gln