Canonical Allele Identifier: CA596997

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs201246433
• ExAC: 1:11907128 T / C
• gnomAD v2: 1-11907128-T-C
• gnomAD v3: 1-11847071-T-C
• gnomAD v4: 1-11847071-T-C
• MyVariant Identifiers: chr1:g.11907128T>C (hg19) ; chr1:g.11847071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847071T>C , CM000663.2:g.11847071T>C	GRCh38
NC_000001.10:g.11907128T>C , CM000663.1:g.11907128T>C	GRCh37
NC_000001.9:g.11829715T>C	NCBI36
NG_012926.1:g.5713A>G , LRG_751:g.5713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-506T>C (CLCN6)	ENSP00000496938.1:n.*1962-506T>C
ENST00000446542.5:n.782-363T>C (NPPA-AS1)
ENST00000376476.1:c.300+42A>G (NPPA)	ENSP00000365659.1:n.300+42A>G
ENST00000376480.7:c.450+42A>G (NPPA) MANE Select	ENSP00000365663.3:n.450+42A>G
ENST00000610706.1:c.450+42A>G (NPPA)	ENSP00000483195.1:n.450+42A>G
NM_006172.3:c.450+42A>G , LRG_751t1:c.450+42A>G (NPPA)	NP_006163.1:n.450+42A>G
NR_037806.1:n.1480-363T>C (NPPA-AS1)
NM_006172.4:c.450+42A>G (NPPA) MANE Select	NP_006163.1:n.450+42A>G