Canonical Allele Identifier: CA597143
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs377243041
ExAC: 1:11907750 C / T
gnomAD v2: 1-11907750-C-T
gnomAD v3: 1-11847693-C-T
gnomAD v4: 1-11847693-C-T
MyVariant Identifiers: chr1:g.11907750C>T (hg19) chr1:g.11847693C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847693C>T , CM000663.2:g.11847693C>T GRCh38
NC_000001.10:g.11907750C>T , CM000663.1:g.11907750C>T GRCh37
NC_000001.9:g.11830337C>T NCBI36
NG_012926.1:g.5091G>A , LRG_751:g.5091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2078C>T (CLCN6) ENSP00000496938.1:n.*2078C>T
ENST00000376476.1:c.-27-254G>A (NPPA) ENSP00000365659.1:n.-27-254G>A
ENST00000376480.7:c.-9G>A (NPPA) MANE Select ENSP00000365663.3:n.-9G>A
ENST00000610706.1:c.-9G>A (NPPA) ENSP00000483195.1:n.-9G>A
NM_006172.3:c.-9G>A , LRG_751t1:c.-9G>A (NPPA) NP_006163.1:n.-9G>A
NM_006172.4:c.-9G>A (NPPA) MANE Select NP_006163.1:n.-9G>A
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