Canonical Allele Identifier: CA338273382

Gene: SDHB

Linked Data

• ClinVar Variation Id: 943043
• ClinVar RCV Id: RCV001213150
• dbSNP Id: rs1570948017
• MyVariant Identifiers: chr1:g.17354346G>C (hg19) ; chr1:g.17027851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027851G>C , CM000663.2:g.17027851G>C	GRCh38
NC_000001.10:g.17354346G>C , CM000663.1:g.17354346G>C	GRCh37
NC_000001.9:g.17226933G>C	NCBI36
NG_012340.1:g.31320C>G , LRG_316:g.31320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.267C>G	ENSP00000481376.2:p.Phe89Leu
ENST00000491274.6:c.396C>G	ENSP00000480482.2:p.Phe132Leu
ENST00000375499.8:c.438C>G MANE Select	ENSP00000364649.3:p.Phe146Leu
ENST00000375499.7:c.438C>G	ENSP00000364649.3:p.Phe146Leu
ENST00000463045.2:c.267C>G	ENSP00000481376.1:p.Phe89Leu
ENST00000475506.1:n.355C>G
ENST00000485515.5:n.372C>G
ENST00000491274.5:c.396C>G	ENSP00000480482.1:p.Phe132Leu
NM_003000.2:c.438C>G , LRG_316t1:c.438C>G	NP_002991.2:p.Phe146Leu
NM_003000.3:c.438C>G MANE Select	NP_002991.2:p.Phe146Leu