Canonical Allele Identifier: CA886104990

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1307549757
• gnomAD v3: 1-11846947-A-C
• gnomAD v4: 1-11846947-A-C
• MyVariant Identifiers: chr1:g.11907004A>C (hg19) ; chr1:g.11846947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846947A>C , CM000663.2:g.11846947A>C	GRCh38
NC_000001.10:g.11907004A>C , CM000663.1:g.11907004A>C	GRCh37
NC_000001.9:g.11829591A>C	NCBI36
NG_012926.1:g.5837T>G , LRG_751:g.5837T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-630A>C (CLCN6)	ENSP00000496938.1:n.*1962-630A>C
ENST00000446542.5:n.782-487A>C (NPPA-AS1)
ENST00000376476.1:c.300+166T>G (NPPA)	ENSP00000365659.1:n.300+166T>G
ENST00000376480.7:c.450+166T>G (NPPA) MANE Select	ENSP00000365663.3:n.450+166T>G
ENST00000610706.1:c.450+166T>G (NPPA)	ENSP00000483195.1:n.450+166T>G
NM_006172.3:c.450+166T>G , LRG_751t1:c.450+166T>G (NPPA)	NP_006163.1:n.450+166T>G
NR_037806.1:n.1480-487A>C (NPPA-AS1)
NM_006172.4:c.450+166T>G (NPPA) MANE Select	NP_006163.1:n.450+166T>G