Canonical Allele Identifier: CA4537187
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143330897G>A
GRCh37 chr7:g.143027990G>A
Revel Score:
ENST00000343257 (MANE Select) 0.612
gnomAD v2:
7:143027990 G / A
gnomAD v3:
7:143330897 G / A
gnomAD v4:
chr7-143330897-G-A
Joint Max Group AF 0.00004699 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004786 (NFE)
ClinVar RCV:
RCV000517879
RCV000638252
ClinVar Variation:
447078
dbSNP:
774396430
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143330897G>A , CM000669.2:g.143330897G>A GRCh38
NC_000007.13:g.143027990G>A , CM000669.1:g.143027990G>A GRCh37
NC_000007.12:g.142738112G>A NCBI36
NG_009815.1:g.19772G>A
NG_009815.2:g.19772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.979G>A ENSP00000498052.2:p.Val327Ile
ENST00000343257.7:c.979G>A MANE Select ENSP00000339867.2:p.Val327Ile
ENST00000432192.6:c.803G>A
ENST00000650516.1:c.979G>A
ENST00000343257.6:c.979G>A ENSP00000339867.2:p.Val327Ile
NM_000083.2:c.979G>A NP_000074.2:p.Val327Ile
NR_046453.1:n.1069G>A
XM_011515781.1:c.979G>A XP_011514083.1:p.Val327Ile
XM_017011739.1:c.529G>A XP_016867228.1:p.Val177Ile
XM_017011740.1:c.529G>A XP_016867229.1:p.Val177Ile
NM_000083.3:c.979G>A MANE Select NP_000074.3:p.Val327Ile
NR_046453.2:n.1084G>A
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