Canonical Allele Identifier: CA886104923

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1163713108
• MyVariant Identifiers: chr1:g.11906824C>G (hg19) ; chr1:g.11846767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846767C>G , CM000663.2:g.11846767C>G	GRCh38
NC_000001.10:g.11906824C>G , CM000663.1:g.11906824C>G	GRCh37
NC_000001.9:g.11829411C>G	NCBI36
NG_012926.1:g.6017G>C , LRG_751:g.6017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-810C>G (CLCN6)	ENSP00000496938.1:n.*1962-810C>G
ENST00000446542.5:n.782-667C>G (NPPA-AS1)
ENST00000376476.1:c.300+346G>C (NPPA)	ENSP00000365659.1:n.300+346G>C
ENST00000376480.7:c.450+346G>C (NPPA) MANE Select	ENSP00000365663.3:n.450+346G>C
ENST00000610706.1:c.450+346G>C (NPPA)	ENSP00000483195.1:n.450+346G>C
NM_006172.3:c.450+346G>C , LRG_751t1:c.450+346G>C (NPPA)	NP_006163.1:n.450+346G>C
NR_037806.1:n.1480-667C>G (NPPA-AS1)
NM_006172.4:c.450+346G>C (NPPA) MANE Select	NP_006163.1:n.450+346G>C