Canonical Allele Identifier: CA597141
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs372733750
ExAC: 1:11907748 G / A
gnomAD v2: 1-11907748-G-A
gnomAD v3: 1-11847691-G-A
gnomAD v4: 1-11847691-G-A
MyVariant Identifiers: chr1:g.11907748G>A (hg19) chr1:g.11847691G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847691G>A , CM000663.2:g.11847691G>A GRCh38
NC_000001.10:g.11907748G>A , CM000663.1:g.11907748G>A GRCh37
NC_000001.9:g.11830335G>A NCBI36
NG_012926.1:g.5093C>T , LRG_751:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2076G>A (CLCN6) ENSP00000496938.1:n.*2076G>A
ENST00000376476.1:c.-27-252C>T (NPPA) ENSP00000365659.1:n.-27-252C>T
ENST00000376480.7:c.-7C>T (NPPA) MANE Select ENSP00000365663.3:n.-7C>T
ENST00000610706.1:c.-7C>T (NPPA) ENSP00000483195.1:n.-7C>T
NM_006172.3:c.-7C>T , LRG_751t1:c.-7C>T (NPPA) NP_006163.1:n.-7C>T
NM_006172.4:c.-7C>T (NPPA) MANE Select NP_006163.1:n.-7C>T
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