Canonical Allele Identifier: CA2778231046
Gene: CLCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352044T>C , CM000669.2:g.143352044T>C GRCh38
NC_000007.13:g.143049137T>C , CM000669.1:g.143049137T>C GRCh37
NC_000007.12:g.142759259T>C NCBI36
NG_009815.1:g.40919T>C
NG_009815.2:g.40919T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*79T>C ENSP00000498052.2:n.*79T>C
ENST00000343257.7:c.*79T>C MANE Select ENSP00000339867.2:n.*79T>C
ENST00000343257.6:c.*79T>C ENSP00000339867.2:n.*79T>C
XM_011515781.1:c.*79T>C XP_011514083.1:n.*79T>C
XM_011515782.1:c.*79T>C XP_011514084.1:n.*79T>C
NM_000083.3:c.*79T>C MANE Select NP_000074.3:n.*79T>C
NR_046453.2:n.3001T>C
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