Canonical Allele Identifier: CA338272858

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2092454
• ClinVar RCV Id: RCV003008216
• MyVariant Identifiers: chr1:g.17354307C>G (hg19) ; chr1:g.17027812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027812C>G , CM000663.2:g.17027812C>G	GRCh38
NC_000001.10:g.17354307C>G , CM000663.1:g.17354307C>G	GRCh37
NC_000001.9:g.17226894C>G	NCBI36
NG_012340.1:g.31359G>C , LRG_316:g.31359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.306G>C	ENSP00000481376.2:p.Lys102Asn
ENST00000491274.6:c.435G>C	ENSP00000480482.2:p.Lys145Asn
ENST00000375499.8:c.477G>C MANE Select	ENSP00000364649.3:p.Lys159Asn
ENST00000375499.7:c.477G>C	ENSP00000364649.3:p.Lys159Asn
ENST00000463045.2:c.306G>C	ENSP00000481376.1:p.Lys102Asn
ENST00000475506.1:n.394G>C
ENST00000485515.5:n.411G>C
ENST00000491274.5:c.435G>C	ENSP00000480482.1:p.Lys145Asn
NM_003000.2:c.477G>C , LRG_316t1:c.477G>C	NP_002991.2:p.Lys159Asn
NM_003000.3:c.477G>C MANE Select	NP_002991.2:p.Lys159Asn