Canonical Allele Identifier: CA416363073

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs1645079269
• MyVariant Identifiers: chr1:g.11907706G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847649G>C , CM000663.2:g.11847649G>C	GRCh38
NC_000001.10:g.11907706G>C , CM000663.1:g.11907706G>C	GRCh37
NC_000001.9:g.11830293G>C	NCBI36
NG_012926.1:g.5135C>G , LRG_751:g.5135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2034G>C (CLCN6)	ENSP00000496938.1:n.*2034G>C
ENST00000446542.5:n.997G>C (NPPA-AS1)
ENST00000376476.1:c.-27-210C>G (NPPA)	ENSP00000365659.1:n.-27-210C>G
ENST00000376480.7:c.36C>G (NPPA) MANE Select	ENSP00000365663.3:p.Leu12=
ENST00000610706.1:c.36C>G (NPPA)	ENSP00000483195.1:p.Leu12=
NM_006172.3:c.36C>G , LRG_751t1:c.36C>G (NPPA)	NP_006163.1:p.Leu12=
NM_006172.4:c.36C>G (NPPA) MANE Select	NP_006163.1:p.Leu12=