Canonical Allele Identifier: CA18610390

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1037791
• ClinVar RCV Id: RCV001341003 ; RCV004005169
• dbSNP Id: rs761180960
• gnomAD v4: 1-17044852-G-A
• MyVariant Identifiers: chr1:g.17371347G>A (hg19) ; chr1:g.17044852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044852G>A , CM000663.2:g.17044852G>A	GRCh38
NC_000001.10:g.17371347G>A , CM000663.1:g.17371347G>A	GRCh37
NC_000001.9:g.17243934G>A	NCBI36
NG_012340.1:g.14319C>T , LRG_316:g.14319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-63C>T	ENSP00000481376.2:n.-63C>T
ENST00000491274.6:c.67C>T	ENSP00000480482.2:p.Pro23Ser
ENST00000375499.8:c.109C>T MANE Select	ENSP00000364649.3:p.Pro37Ser
ENST00000375499.7:c.109C>T	ENSP00000364649.3:p.Pro37Ser
ENST00000463045.2:c.-63C>T	ENSP00000481376.1:n.-63C>T
ENST00000466613.2:n.121C>T
ENST00000475506.1:n.26C>T
ENST00000485515.5:n.97C>T
ENST00000491274.5:c.67C>T	ENSP00000480482.1:p.Pro23Ser
NM_003000.2:c.109C>T , LRG_316t1:c.109C>T	NP_002991.2:p.Pro37Ser
NM_003000.3:c.109C>T MANE Select	NP_002991.2:p.Pro37Ser