Canonical Allele Identifier: CA18006834

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs894203924
• gnomAD v2: 1-11903823-G-C
• gnomAD v3: 1-11843766-G-C
• gnomAD v4: 1-11843766-G-C
• MyVariant Identifiers: chr1:g.11903823G>C (hg19) ; chr1:g.11843766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843766G>C , CM000663.2:g.11843766G>C	GRCh38
NC_000001.10:g.11903823G>C , CM000663.1:g.11903823G>C	GRCh37
NC_000001.9:g.11826410G>C	NCBI36
NG_008766.1:g.42617G>C
NG_012926.1:g.9018C>G , LRG_751:g.9018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1434G>C (CLCN6)	ENSP00000496938.1:n.*1434G>C
ENST00000446542.5:n.254G>C (NPPA-AS1)
NR_037806.1:n.952G>C (NPPA-AS1)