Canonical Allele Identifier: CA416047153

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1926740
• ClinVar RCV Id: RCV002605334
• dbSNP Id: rs1484330671
• gnomAD v2: 1-17371360-A-G
• MyVariant Identifiers: chr1:g.17371360A>G (hg19) ; chr1:g.17044865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044865A>G , CM000663.2:g.17044865A>G	GRCh38
NC_000001.10:g.17371360A>G , CM000663.1:g.17371360A>G	GRCh37
NC_000001.9:g.17243947A>G	NCBI36
NG_012340.1:g.14306T>C , LRG_316:g.14306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-76T>C	ENSP00000481376.2:n.-76T>C
ENST00000491274.6:c.54T>C	ENSP00000480482.2:p.Ala18=
ENST00000375499.8:c.96T>C MANE Select	ENSP00000364649.3:p.Ala32=
ENST00000375499.7:c.96T>C	ENSP00000364649.3:p.Ala32=
ENST00000463045.2:c.-76T>C	ENSP00000481376.1:n.-76T>C
ENST00000466613.2:n.108T>C
ENST00000475506.1:n.13T>C
ENST00000485515.5:n.84T>C
ENST00000491274.5:c.54T>C	ENSP00000480482.1:p.Ala18=
NM_003000.2:c.96T>C , LRG_316t1:c.96T>C	NP_002991.2:p.Ala32=
NM_003000.3:c.96T>C MANE Select	NP_002991.2:p.Ala32=