Canonical Allele Identifier: CA089599

Gene: SDHB

Linked Data

• ClinVar Variation Id: 293817
• ClinVar RCV Id: RCV000333283 ; RCV000380882 ; RCV000421214 ; RCV003316466
• dbSNP Id: rs143031690
• ExAC: 1:17380551 A / G
• gnomAD v2: 1-17380551-A-G
• gnomAD v3: 1-17054056-A-G
• gnomAD v4: 1-17054056-A-G
• MyVariant Identifiers: chr1:g.17380551A>G (hg19) ; chr1:g.17054056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17054056A>G , CM000663.2:g.17054056A>G	GRCh38
NC_000001.10:g.17380551A>G , CM000663.1:g.17380551A>G	GRCh37
NC_000001.9:g.17253138A>G	NCBI36
NG_012340.1:g.5115T>C , LRG_316:g.5115T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375499.7:c.-37T>C	ENSP00000364649.3:n.-37T>C
NM_003000.2:c.-37T>C , LRG_316t1:c.-37T>C	NP_002991.2:n.-37T>C