Canonical Allele Identifier: CA341533
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143331265G>A
GRCh37 chr7:g.143028358G>A
Revel Score:
ENST00000343257 (MANE Select) 0.861
gnomAD v2:
7:143028358 G / A
gnomAD v3:
7:143331265 G / A
gnomAD v4:
chr7-143331265-G-A
Joint Max Group AF 0.00003775 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003805 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331265G>A , CM000669.2:g.143331265G>A GRCh38
NC_000007.13:g.143028358G>A , CM000669.1:g.143028358G>A GRCh37
NC_000007.12:g.142738480G>A NCBI36
NG_009815.1:g.20140G>A
NG_009815.2:g.20140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1013G>A ENSP00000498052.2:p.Arg338Gln
ENST00000343257.7:c.1013G>A MANE Select ENSP00000339867.2:p.Arg338Gln
ENST00000432192.6:c.837G>A
ENST00000343257.6:c.1013G>A ENSP00000339867.2:p.Arg338Gln
NM_000083.2:c.1013G>A NP_000074.2:p.Arg338Gln
NR_046453.1:n.1103G>A
XM_011515781.1:c.1013G>A XP_011514083.1:p.Arg338Gln
XM_017011739.1:c.563G>A XP_016867228.1:p.Arg188Gln
XM_017011740.1:c.563G>A XP_016867229.1:p.Arg188Gln
NM_000083.3:c.1013G>A MANE Select NP_000074.3:p.Arg338Gln
NR_046453.2:n.1118G>A
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