Canonical Allele Identifier: CA338452031
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

COSMIC: COSM3399596
MyVariant Identifiers: chr1:g.11907712G>C (hg19) chr1:g.11847655G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847655G>C , CM000663.2:g.11847655G>C GRCh38
NC_000001.10:g.11907712G>C , CM000663.1:g.11907712G>C GRCh37
NC_000001.9:g.11830299G>C NCBI36
NG_012926.1:g.5129C>G , LRG_751:g.5129C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2040G>C (CLCN6) ENSP00000496938.1:n.*2040G>C
ENST00000446542.5:n.1003G>C (NPPA-AS1)
ENST00000376476.1:c.-27-216C>G (NPPA) ENSP00000365659.1:n.-27-216C>G
ENST00000376480.7:c.30C>G (NPPA) MANE Select ENSP00000365663.3:p.Ser10Arg
ENST00000610706.1:c.30C>G (NPPA) ENSP00000483195.1:p.Ser10Arg
NM_006172.3:c.30C>G , LRG_751t1:c.30C>G (NPPA) NP_006163.1:p.Ser10Arg
NM_006172.4:c.30C>G (NPPA) MANE Select NP_006163.1:p.Ser10Arg
Search 100 bp 5'
Search 100 bp 3'