Canonical Allele Identifier: CA2685383109
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143321647-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321647T>A , CM000669.2:g.143321647T>A GRCh38
NC_000007.13:g.143018740T>A , CM000669.1:g.143018740T>A GRCh37
NC_000007.12:g.142728862T>A NCBI36
NG_009815.1:g.10522T>A
NG_009815.2:g.10522T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.563-68T>A ENSP00000498052.2:n.563-68T>A
ENST00000343257.7:c.563-68T>A MANE Select ENSP00000339867.2:n.563-68T>A
ENST00000432192.6:c.331-68T>A
ENST00000455478.6:c.17-68T>A ENSP00000400027.2:n.17-68T>A
ENST00000650516.1:c.563-68T>A ENSP00000498052.1:n.563-68T>A
ENST00000343257.6:c.563-68T>A ENSP00000339867.2:n.563-68T>A
ENST00000432192.5:c.21-68T>A
ENST00000455478.5:c.21-68T>A
ENST00000495612.1:n.21-68T>A
NM_000083.2:c.563-68T>A NP_000074.2:n.563-68T>A
NR_046453.1:n.650-68T>A
XM_011515781.1:c.563-68T>A XP_011514083.1:n.563-68T>A
XM_017011739.1:c.270-68T>A XP_016867228.1:n.270-68T>A
XM_017011740.1:c.270-68T>A XP_016867229.1:n.270-68T>A
NM_000083.3:c.563-68T>A MANE Select NP_000074.3:n.563-68T>A
NR_046453.2:n.665-68T>A
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