Canonical Allele Identifier: CA338276577

Gene: SDHB

Linked Data

• ClinVar Variation Id: 656049
• ClinVar RCV Id: RCV000812361 ; RCV001015259
• dbSNP Id: rs776971836
• MyVariant Identifiers: chr1:g.17359607C>A (hg19) ; chr1:g.17033112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033112C>A , CM000663.2:g.17033112C>A	GRCh38
NC_000001.10:g.17359607C>A , CM000663.1:g.17359607C>A	GRCh37
NC_000001.9:g.17232194C>A	NCBI36
NG_012340.1:g.26059G>T , LRG_316:g.26059G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.63G>T	ENSP00000481376.2:p.Lys21Asn
ENST00000491274.6:c.192G>T	ENSP00000480482.2:p.Lys64Asn
ENST00000375499.8:c.234G>T MANE Select	ENSP00000364649.3:p.Lys78Asn
ENST00000375499.7:c.234G>T	ENSP00000364649.3:p.Lys78Asn
ENST00000463045.2:c.63G>T	ENSP00000481376.1:p.Lys21Asn
ENST00000466613.2:n.246G>T
ENST00000475506.1:n.151G>T
ENST00000485515.5:n.222G>T
ENST00000491274.5:c.192G>T	ENSP00000480482.1:p.Lys64Asn
NM_003000.2:c.234G>T , LRG_316t1:c.234G>T	NP_002991.2:p.Lys78Asn
NM_003000.3:c.234G>T MANE Select	NP_002991.2:p.Lys78Asn