Canonical Allele Identifier: CA416362988

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1474098372
• gnomAD v2: 1-11907613-C-G
• gnomAD v4: 1-11847556-C-G
• MyVariant Identifiers: chr1:g.11907613C>G (hg19) ; chr1:g.11847556C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847556C>G , CM000663.2:g.11847556C>G	GRCh38
NC_000001.10:g.11907613C>G , CM000663.1:g.11907613C>G	GRCh37
NC_000001.9:g.11830200C>G	NCBI36
NG_012926.1:g.5228G>C , LRG_751:g.5228G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1962-21C>G (CLCN6)	ENSP00000496938.1:n.*1962-21C>G
ENST00000446542.5:n.904C>G (NPPA-AS1)
ENST00000376476.1:c.-27-117G>C (NPPA)	ENSP00000365659.1:n.-27-117G>C
ENST00000376480.7:c.123+6G>C (NPPA) MANE Select	ENSP00000365663.3:n.123+6G>C
ENST00000610706.1:c.123+6G>C (NPPA)	ENSP00000483195.1:n.123+6G>C
NM_006172.3:c.123+6G>C , LRG_751t1:c.123+6G>C (NPPA)	NP_006163.1:n.123+6G>C
NR_037806.1:n.1602C>G (NPPA-AS1)
NM_006172.4:c.123+6G>C (NPPA) MANE Select	NP_006163.1:n.123+6G>C