Canonical Allele Identifier: CA369683342
Gene: CLCN1 HGNC NCBI

Linked Data

COSMIC: COSM3258052
MyVariant Identifiers: chr7:g.143018468G>A (hg19) chr7:g.143321375G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321375G>A , CM000669.2:g.143321375G>A GRCh38
NC_000007.13:g.143018468G>A , CM000669.1:g.143018468G>A GRCh37
NC_000007.12:g.142728590G>A NCBI36
NG_009815.1:g.10250G>A
NG_009815.2:g.10250G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.444G>A ENSP00000498052.2:p.Trp148Ter
ENST00000343257.7:c.444G>A MANE Select ENSP00000339867.2:p.Trp148Ter
ENST00000432192.6:c.212G>A
ENST00000650516.1:c.444G>A ENSP00000498052.1:p.Trp148Ter
ENST00000343257.6:c.444G>A ENSP00000339867.2:p.Trp148Ter
NM_000083.2:c.444G>A NP_000074.2:p.Trp148Ter
NR_046453.1:n.531G>A
XM_011515781.1:c.444G>A XP_011514083.1:p.Trp148Ter
XM_017011739.1:c.151G>A XP_016867228.1:p.Val51Ile
XM_017011740.1:c.151G>A XP_016867229.1:p.Val51Ile
NM_000083.3:c.444G>A MANE Select NP_000074.3:p.Trp148Ter
NR_046453.2:n.546G>A
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