Canonical Allele Identifier: CA1748898451
Gene: CLCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352021C= , CM000669.2:g.143352021C= GRCh38
NC_000007.13:g.143049114C= , CM000669.1:g.143049114C= GRCh37
NC_000007.12:g.142759236C= NCBI36
NG_009815.1:g.40896C=
NG_009815.2:g.40896C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*56C= ENSP00000498052.2:n.*56C=
ENST00000343257.7:c.*56C= MANE Select ENSP00000339867.2:n.*56C=
ENST00000343257.6:c.*56C= ENSP00000339867.2:n.*56C=
XM_011515781.1:c.*56C= XP_011514083.1:n.*56C=
XM_011515782.1:c.*56C= XP_011514084.1:n.*56C=
NM_000083.3:c.*56C= MANE Select NP_000074.3:n.*56C=
NR_046453.2:n.2978C=
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