Canonical Allele Identifier: CA2643312158
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

gnomAD v4: 1-11847689-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847689G>T , CM000663.2:g.11847689G>T GRCh38
NC_000001.10:g.11907746G>T , CM000663.1:g.11907746G>T GRCh37
NC_000001.9:g.11830333G>T NCBI36
NG_012926.1:g.5095C>A , LRG_751:g.5095C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2074G>T (CLCN6) ENSP00000496938.1:n.*2074G>T
ENST00000376476.1:c.-27-250C>A (NPPA) ENSP00000365659.1:n.-27-250C>A
ENST00000376480.7:c.-5C>A (NPPA) MANE Select ENSP00000365663.3:n.-5C>A
ENST00000610706.1:c.-5C>A (NPPA) ENSP00000483195.1:n.-5C>A
NM_006172.3:c.-5C>A , LRG_751t1:c.-5C>A (NPPA) NP_006163.1:n.-5C>A
NM_006172.4:c.-5C>A (NPPA) MANE Select NP_006163.1:n.-5C>A
Search 100 bp 5'
Search 100 bp 3'