Canonical Allele Identifier: CA597139
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs775998714
ExAC: 1:11907743 C / T
gnomAD v2: 1-11907743-C-T
gnomAD v4: 1-11847686-C-T
MyVariant Identifiers: chr1:g.11907743C>T (hg19) chr1:g.11847686C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847686C>T , CM000663.2:g.11847686C>T GRCh38
NC_000001.10:g.11907743C>T , CM000663.1:g.11907743C>T GRCh37
NC_000001.9:g.11830330C>T NCBI36
NG_012926.1:g.5098G>A , LRG_751:g.5098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2071C>T (CLCN6) ENSP00000496938.1:n.*2071C>T
ENST00000376476.1:c.-27-247G>A (NPPA) ENSP00000365659.1:n.-27-247G>A
ENST00000376480.7:c.-2G>A (NPPA) MANE Select ENSP00000365663.3:n.-2G>A
ENST00000610706.1:c.-2G>A (NPPA) ENSP00000483195.1:n.-2G>A
NM_006172.3:c.-2G>A , LRG_751t1:c.-2G>A (NPPA) NP_006163.1:n.-2G>A
NM_006172.4:c.-2G>A (NPPA) MANE Select NP_006163.1:n.-2G>A
Search 100 bp 5'
Search 100 bp 3'