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: CA18006949

Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs7552330

gnomAD v2: 1-11904092-G-A

gnomAD v3: 1-11844035-G-A

gnomAD v4: 1-11844035-G-A

MyVariant Identifiers: chr1:g.11904092G>A (hg19) chr1:g.11844035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11844035G>A , CM000663.2:g.11844035G>A	GRCh38
NC_000001.10:g.11904092G>A , CM000663.1:g.11904092G>A	GRCh37
NC_000001.9:g.11826679G>A	NCBI36
NG_008766.1:g.42886G>A
NG_012926.1:g.8749C>T , LRG_751:g.8749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1703G>A (CLCN6)	ENSP00000496938.1:n.*1703G>A
ENST00000446542.5:n.523G>A (NPPA-AS1)
NR_037806.1:n.1221G>A (NPPA-AS1)

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