Canonical Allele Identifier: CA338228194

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1760469
• ClinVar RCV Id: RCV002409688
• MyVariant Identifiers: chr1:g.17371332A>T (hg19) ; chr1:g.17044837A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044837A>T , CM000663.2:g.17044837A>T	GRCh38
NC_000001.10:g.17371332A>T , CM000663.1:g.17371332A>T	GRCh37
NC_000001.9:g.17243919A>T	NCBI36
NG_012340.1:g.14334T>A , LRG_316:g.14334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-48T>A	ENSP00000481376.2:n.-48T>A
ENST00000491274.6:c.82T>A	ENSP00000480482.2:p.Phe28Ile
ENST00000375499.8:c.124T>A MANE Select	ENSP00000364649.3:p.Phe42Ile
ENST00000375499.7:c.124T>A	ENSP00000364649.3:p.Phe42Ile
ENST00000463045.2:c.-48T>A	ENSP00000481376.1:n.-48T>A
ENST00000466613.2:n.136T>A
ENST00000475506.1:n.41T>A
ENST00000485515.5:n.112T>A
ENST00000491274.5:c.82T>A	ENSP00000480482.1:p.Phe28Ile
NM_003000.2:c.124T>A , LRG_316t1:c.124T>A	NP_002991.2:p.Phe42Ile
NM_003000.3:c.124T>A MANE Select	NP_002991.2:p.Phe42Ile