Canonical Allele Identifier: CA338273454

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2934131
• ClinVar RCV Id: RCV003795881 ; RCV004366594
• gnomAD v4: 1-17027855-T-C
• MyVariant Identifiers: chr1:g.17354350T>C (hg19) ; chr1:g.17027855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027855T>C , CM000663.2:g.17027855T>C	GRCh38
NC_000001.10:g.17354350T>C , CM000663.1:g.17354350T>C	GRCh37
NC_000001.9:g.17226937T>C	NCBI36
NG_012340.1:g.31316A>G , LRG_316:g.31316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.263A>G	ENSP00000481376.2:p.Asn88Ser
ENST00000491274.6:c.392A>G	ENSP00000480482.2:p.Asn131Ser
ENST00000375499.8:c.434A>G MANE Select	ENSP00000364649.3:p.Asn145Ser
ENST00000375499.7:c.434A>G	ENSP00000364649.3:p.Asn145Ser
ENST00000463045.2:c.263A>G	ENSP00000481376.1:p.Asn88Ser
ENST00000475506.1:n.351A>G
ENST00000485515.5:n.368A>G
ENST00000491274.5:c.392A>G	ENSP00000480482.1:p.Asn131Ser
NM_003000.2:c.434A>G , LRG_316t1:c.434A>G	NP_002991.2:p.Asn145Ser
NM_003000.3:c.434A>G MANE Select	NP_002991.2:p.Asn145Ser