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.

Canonical Allele Identifier: CA862779738

Gene: C9orf72 HGNC NCBI

Linked Data

dbSNP Id: rs3849942

gnomAD v3: 9-27543283-T-A

gnomAD v4: 9-27543283-T-A

MyVariant Identifiers: chr9:g.27543281T>A (hg19) chr9:g.27543283T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27543283T>A , CM000671.2:g.27543283T>A	GRCh38
NC_000009.11:g.27543281T>A , CM000671.1:g.27543281T>A	GRCh37
NC_000009.10:g.27533281T>A	NCBI36
NG_031977.2:g.35584A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673600.1:c.*267+4832A>T	ENSP00000500650.1:n.*267+4832A>T
XR_001746639.2:n.862A>T

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