Canonical Allele Identifier: CA1748889012
Gene: CLCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331020A= , CM000669.2:g.143331020A= GRCh38
NC_000007.13:g.143028113A= , CM000669.1:g.143028113A= GRCh37
NC_000007.12:g.142738235A= NCBI36
NG_009815.1:g.19895A=
NG_009815.2:g.19895A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.979+123A= ENSP00000498052.2:n.979+123A=
ENST00000343257.7:c.979+123A= MANE Select ENSP00000339867.2:n.979+123A=
ENST00000432192.6:c.803+123A=
ENST00000343257.6:c.979+123A= ENSP00000339867.2:n.979+123A=
NM_000083.2:c.979+123A= NP_000074.2:n.979+123A=
NR_046453.1:n.1069+123A=
XM_011515781.1:c.979+123A= XP_011514083.1:n.979+123A=
XM_017011739.1:c.529+123A= XP_016867228.1:n.529+123A=
XM_017011740.1:c.529+123A= XP_016867229.1:n.529+123A=
NM_000083.3:c.979+123A= MANE Select NP_000074.3:n.979+123A=
NR_046453.2:n.1084+123A=
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