Canonical Allele Identifier: CA258026
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143339534G>A
GRCh37 chr7:g.143036627G>A
Revel Score:
ENST00000343257 (MANE Select) 0.960
gnomAD v2:
7:143036627 G / A
gnomAD v4:
chr7-143339534-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000019096
RCV001382414
ClinVar Variation:
17543
dbSNP:
121912807
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339534G>A , CM000669.2:g.143339534G>A GRCh38
NC_000007.13:g.143036627G>A , CM000669.1:g.143036627G>A GRCh37
NC_000007.12:g.142746749G>A NCBI36
NG_009815.1:g.28409G>A
NG_009815.2:g.28409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1495G>A ENSP00000498052.2:p.Gly499Arg
ENST00000343257.7:c.1495G>A MANE Select ENSP00000339867.2:p.Gly499Arg
ENST00000432192.6:c.1319G>A
ENST00000343257.6:c.1495G>A ENSP00000339867.2:p.Gly499Arg
NM_000083.2:c.1495G>A NP_000074.2:p.Gly499Arg
NR_046453.1:n.1435G>A
XM_011515781.1:c.1519G>A XP_011514083.1:p.Gly507Arg
XM_011515782.1:c.241G>A XP_011514084.1:p.Gly81Arg
XM_011515782.2:c.241G>A XP_011514084.1:p.Gly81Arg
XM_017011739.1:c.1069G>A XP_016867228.1:p.Gly357Arg
XM_017011740.1:c.1045G>A XP_016867229.1:p.Gly349Arg
NM_000083.3:c.1495G>A MANE Select NP_000074.3:p.Gly499Arg
NR_046453.2:n.1450G>A
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