Canonical Allele Identifier: CA338274046

Gene: SDHB

Linked Data

• ClinVar Variation Id: 3071913
• ClinVar RCV Id: RCV004011943
• MyVariant Identifiers: chr1:g.17355114A>G (hg19) ; chr1:g.17028619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028619A>G , CM000663.2:g.17028619A>G	GRCh38
NC_000001.10:g.17355114A>G , CM000663.1:g.17355114A>G	GRCh37
NC_000001.9:g.17227701A>G	NCBI36
NG_012340.1:g.30552T>C , LRG_316:g.30552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.233T>C	ENSP00000481376.2:p.Val78Ala
ENST00000491274.6:c.362T>C	ENSP00000480482.2:p.Val121Ala
ENST00000375499.8:c.404T>C MANE Select	ENSP00000364649.3:p.Val135Ala
ENST00000375499.7:c.404T>C	ENSP00000364649.3:p.Val135Ala
ENST00000463045.2:c.233T>C	ENSP00000481376.1:p.Val78Ala
ENST00000475506.1:n.321T>C
ENST00000485515.5:n.357+35T>C
ENST00000491274.5:c.362T>C	ENSP00000480482.1:p.Val121Ala
NM_003000.2:c.404T>C , LRG_316t1:c.404T>C	NP_002991.2:p.Val135Ala
NM_003000.3:c.404T>C MANE Select	NP_002991.2:p.Val135Ala