Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA416107102

Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1645062970

gnomAD v3: 1-11845666-G-C

gnomAD v4: 1-11845666-G-C

MyVariant Identifiers: chr1:g.11905723G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845666G>C , CM000663.2:g.11845666G>C	GRCh38
NC_000001.10:g.11905723G>C , CM000663.1:g.11905723G>C	GRCh37
NC_000001.9:g.11828310G>C	NCBI36
NG_012926.1:g.7118C>G , LRG_751:g.7118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1861G>C (CLCN6)	ENSP00000496938.1:n.*1861G>C
ENST00000446542.5:n.681G>C (NPPA-AS1)
NR_037806.1:n.1379G>C (NPPA-AS1)

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