Canonical Allele Identifier: CA597140
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs112722616
ExAC: 1:11907747 C / T
gnomAD v2: 1-11907747-C-T
gnomAD v3: 1-11847690-C-T
gnomAD v4: 1-11847690-C-T
MyVariant Identifiers: chr1:g.11907747C>T (hg19) chr1:g.11847690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847690C>T , CM000663.2:g.11847690C>T GRCh38
NC_000001.10:g.11907747C>T , CM000663.1:g.11907747C>T GRCh37
NC_000001.9:g.11830334C>T NCBI36
NG_012926.1:g.5094G>A , LRG_751:g.5094G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2075C>T (CLCN6) ENSP00000496938.1:n.*2075C>T
ENST00000376476.1:c.-27-251G>A (NPPA) ENSP00000365659.1:n.-27-251G>A
ENST00000376480.7:c.-6G>A (NPPA) MANE Select ENSP00000365663.3:n.-6G>A
ENST00000610706.1:c.-6G>A (NPPA) ENSP00000483195.1:n.-6G>A
NM_006172.3:c.-6G>A , LRG_751t1:c.-6G>A (NPPA) NP_006163.1:n.-6G>A
NM_006172.4:c.-6G>A (NPPA) MANE Select NP_006163.1:n.-6G>A
Search 100 bp 5'
Search 100 bp 3'