Canonical Allele Identifier: CA886104023

Gene: CLCN6 NPPA-AS1

Linked Data

• dbSNP Id: rs1273983093
• gnomAD v4: 1-11843580-G-A
• MyVariant Identifiers: chr1:g.11903637G>A (hg19) ; chr1:g.11843580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11843580G>A , CM000663.2:g.11843580G>A	GRCh38
NC_000001.10:g.11903637G>A , CM000663.1:g.11903637G>A	GRCh37
NC_000001.9:g.11826224G>A	NCBI36
NG_008766.1:g.42431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1402-154G>A (CLCN6)	ENSP00000496938.1:n.*1402-154G>A
ENST00000446542.5:n.192-124G>A (NPPA-AS1)
NR_037806.1:n.890-124G>A (NPPA-AS1)