Canonical Allele Identifier: CA597145
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs200327742
ExAC: 1:11907755 A / G
gnomAD v2: 1-11907755-A-G
gnomAD v3: 1-11847698-A-G
gnomAD v4: 1-11847698-A-G
MyVariant Identifiers: chr1:g.11907755A>G (hg19) chr1:g.11847698A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847698A>G , CM000663.2:g.11847698A>G GRCh38
NC_000001.10:g.11907755A>G , CM000663.1:g.11907755A>G GRCh37
NC_000001.9:g.11830342A>G NCBI36
NG_012926.1:g.5086T>C , LRG_751:g.5086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2083A>G (CLCN6) ENSP00000496938.1:n.*2083A>G
ENST00000376476.1:c.-27-259T>C (NPPA) ENSP00000365659.1:n.-27-259T>C
ENST00000376480.7:c.-14T>C (NPPA) MANE Select ENSP00000365663.3:n.-14T>C
ENST00000610706.1:c.-14T>C (NPPA) ENSP00000483195.1:n.-14T>C
NM_006172.3:c.-14T>C , LRG_751t1:c.-14T>C (NPPA) NP_006163.1:n.-14T>C
NM_006172.4:c.-14T>C (NPPA) MANE Select NP_006163.1:n.-14T>C
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