Canonical Allele Identifier: CA2579050861
Gene: CLCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341857T>A , CM000669.2:g.143341857T>A GRCh38
NC_000007.13:g.143038950T>A , CM000669.1:g.143038950T>A GRCh37
NC_000007.12:g.142749072T>A NCBI36
NG_009815.1:g.30732T>A
NG_009815.2:g.30732T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1583-72T>A ENSP00000498052.2:n.1583-72T>A
ENST00000343257.7:c.1583-72T>A MANE Select ENSP00000339867.2:n.1583-72T>A
ENST00000432192.6:c.1407-72T>A
ENST00000343257.6:c.1583-72T>A ENSP00000339867.2:n.1583-72T>A
NM_000083.2:c.1583-72T>A NP_000074.2:n.1583-72T>A
NR_046453.1:n.1523-72T>A
XM_011515781.1:c.1607-72T>A XP_011514083.1:n.1607-72T>A
XM_011515782.1:c.329-72T>A XP_011514084.1:n.329-72T>A
XM_011515782.2:c.329-72T>A XP_011514084.1:n.329-72T>A
XM_017011739.1:c.1157-72T>A XP_016867228.1:n.1157-72T>A
XM_017011740.1:c.1133-72T>A XP_016867229.1:n.1133-72T>A
NM_000083.3:c.1583-72T>A MANE Select NP_000074.3:n.1583-72T>A
NR_046453.2:n.1538-72T>A
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