Canonical Allele Identifier: CA1748898465
Gene: CLCN1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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