Canonical Allele Identifier: CA2685382574
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143351536-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351536C>A , CM000669.2:g.143351536C>A GRCh38
NC_000007.13:g.143048629C>A , CM000669.1:g.143048629C>A GRCh37
NC_000007.12:g.142758751C>A NCBI36
NG_009815.1:g.40411C>A
NG_009815.2:g.40411C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.2596-58C>A ENSP00000498052.2:n.2596-58C>A
ENST00000343257.7:c.2596-58C>A MANE Select ENSP00000339867.2:n.2596-58C>A
ENST00000432192.6:c.2420-58C>A
ENST00000343257.6:c.2596-58C>A ENSP00000339867.2:n.2596-58C>A
NM_000083.2:c.2596-58C>A NP_000074.2:n.2596-58C>A
NR_046453.1:n.2536-58C>A
XM_011515781.1:c.2620-58C>A XP_011514083.1:n.2620-58C>A
XM_011515782.1:c.1342-58C>A XP_011514084.1:n.1342-58C>A
XM_011515782.2:c.1342-58C>A XP_011514084.1:n.1342-58C>A
XM_017011739.1:c.2170-58C>A XP_016867228.1:n.2170-58C>A
XM_017011740.1:c.2146-58C>A XP_016867229.1:n.2146-58C>A
NM_000083.3:c.2596-58C>A MANE Select NP_000074.3:n.2596-58C>A
NR_046453.2:n.2551-58C>A
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