Canonical Allele Identifier: CA338228044

Gene: SDHB

Linked Data

• ClinVar Variation Id: 845863
• ClinVar RCV Id: RCV001049021
• dbSNP Id: rs2078100198
• MyVariant Identifiers: chr1:g.17371314C>T (hg19) ; chr1:g.17044819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044819C>T , CM000663.2:g.17044819C>T	GRCh38
NC_000001.10:g.17371314C>T , CM000663.1:g.17371314C>T	GRCh37
NC_000001.9:g.17243901C>T	NCBI36
NG_012340.1:g.14352G>A , LRG_316:g.14352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-30G>A	ENSP00000481376.2:n.-30G>A
ENST00000491274.6:c.100G>A	ENSP00000480482.2:p.Asp34Asn
ENST00000375499.8:c.142G>A MANE Select	ENSP00000364649.3:p.Asp48Asn
ENST00000375499.7:c.142G>A	ENSP00000364649.3:p.Asp48Asn
ENST00000463045.2:c.-30G>A	ENSP00000481376.1:n.-30G>A
ENST00000466613.2:n.154G>A
ENST00000475506.1:n.59G>A
ENST00000485515.5:n.130G>A
ENST00000491274.5:c.100G>A	ENSP00000480482.1:p.Asp34Asn
NM_003000.2:c.142G>A , LRG_316t1:c.142G>A	NP_002991.2:p.Asp48Asn
NM_003000.3:c.142G>A MANE Select	NP_002991.2:p.Asp48Asn