Canonical Allele Identifier: CA2643312161
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11847699-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847699G>A , CM000663.2:g.11847699G>A GRCh38
NC_000001.10:g.11907756G>A , CM000663.1:g.11907756G>A GRCh37
NC_000001.9:g.11830343G>A NCBI36
NG_012926.1:g.5085C>T , LRG_751:g.5085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2084G>A (CLCN6) ENSP00000496938.1:n.*2084G>A
ENST00000376476.1:c.-27-260C>T (NPPA) ENSP00000365659.1:n.-27-260C>T
ENST00000376480.7:c.-15C>T (NPPA) MANE Select ENSP00000365663.3:n.-15C>T
ENST00000610706.1:c.-15C>T (NPPA) ENSP00000483195.1:n.-15C>T
NM_006172.3:c.-15C>T , LRG_751t1:c.-15C>T (NPPA) NP_006163.1:n.-15C>T
NM_006172.4:c.-15C>T (NPPA) MANE Select NP_006163.1:n.-15C>T
Search 100 bp 5'
Search 100 bp 3'