Canonical Allele Identifier: CA4537004
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143321720G>A
GRCh37 chr7:g.143018813G>A
Revel Score:
ENST00000343257 (MANE Select) 0.952
gnomAD v2:
7:143018813 G / A
gnomAD v3:
7:143321720 G / A
gnomAD v4:
chr7-143321720-G-A
Joint Max Group AF 0.00003503 (NFE)
Exomes Max Group AF 0.00003631 (NFE)
ClinVar RCV:
RCV000530513
RCV000711236
ClinVar Variation:
289004
dbSNP:
369773321
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321720G>A , CM000669.2:g.143321720G>A GRCh38
NC_000007.13:g.143018813G>A , CM000669.1:g.143018813G>A GRCh37
NC_000007.12:g.142728935G>A NCBI36
NG_009815.1:g.10595G>A
NG_009815.2:g.10595G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.568G>A ENSP00000498052.2:p.Gly190Arg
ENST00000343257.7:c.568G>A MANE Select ENSP00000339867.2:p.Gly190Arg
ENST00000432192.6:c.336G>A
ENST00000455478.6:c.22G>A ENSP00000400027.2:p.Gly8Arg
ENST00000650516.1:c.568G>A ENSP00000498052.1:p.Gly190Arg
ENST00000343257.6:c.568G>A ENSP00000339867.2:p.Gly190Arg
ENST00000432192.5:c.26G>A
ENST00000455478.5:c.26G>A
ENST00000495612.1:n.26G>A
NM_000083.2:c.568G>A NP_000074.2:p.Gly190Arg
NR_046453.1:n.655G>A
XM_011515781.1:c.568G>A XP_011514083.1:p.Gly190Arg
XM_017011739.1:c.275G>A XP_016867228.1:p.Trp92Ter
XM_017011740.1:c.275G>A XP_016867229.1:p.Trp92Ter
NM_000083.3:c.568G>A MANE Select NP_000074.3:p.Gly190Arg
NR_046453.2:n.670G>A
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