Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA338272394

Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 468237

ClinVar RCV Id: RCV001376794

dbSNP Id: rs1553177667

gnomAD v4: 1-17027748-C-T

MyVariant Identifiers: chr1:g.17354243C>T (hg19) chr1:g.17027748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027748C>T , CM000663.2:g.17027748C>T	GRCh38
NC_000001.10:g.17354243C>T , CM000663.1:g.17354243C>T	GRCh37
NC_000001.9:g.17226830C>T	NCBI36
NG_012340.1:g.31423G>A , LRG_316:g.31423G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.369+1G>A	ENSP00000481376.2:n.369+1G>A
ENST00000491274.6:c.498+1G>A	ENSP00000480482.2:n.498+1G>A
ENST00000375499.8:c.540+1G>A MANE Select	ENSP00000364649.3:n.540+1G>A
ENST00000375499.7:c.540+1G>A	ENSP00000364649.3:n.540+1G>A
ENST00000475506.1:n.458G>A
ENST00000485515.5:n.474+1G>A
ENST00000491274.5:c.498+1G>A	ENSP00000480482.1:n.498+1G>A
NM_003000.2:c.540+1G>A , LRG_316t1:c.540+1G>A	NP_002991.2:n.540+1G>A
NM_003000.3:c.540+1G>A MANE Select	NP_002991.2:n.540+1G>A