Canonical Allele Identifier: CA258010
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143332490T>G
GRCh37 chr7:g.143029583T>G
Revel Score:
ENST00000343257 (MANE Select) 0.901
gnomAD v2:
7:143029583 T / G
gnomAD v3:
7:143332490 T / G
gnomAD v4:
chr7-143332490-T-G
Joint Max Group AF 0.00017486 (NFE)
Genomes Max Group AF 0.00013496 (NFE)
Exomes Max Group AF 0.00017294 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332490T>G , CM000669.2:g.143332490T>G GRCh38
NC_000007.13:g.143029583T>G , CM000669.1:g.143029583T>G GRCh37
NC_000007.12:g.142739705T>G NCBI36
NG_009815.1:g.21365T>G
NG_009815.2:g.21365T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1238T>G ENSP00000498052.2:p.Phe413Cys
ENST00000343257.7:c.1238T>G MANE Select ENSP00000339867.2:p.Phe413Cys
ENST00000432192.6:c.1062T>G
ENST00000343257.6:c.1238T>G ENSP00000339867.2:p.Phe413Cys
NM_000083.2:c.1238T>G NP_000074.2:p.Phe413Cys
NR_046453.1:n.1328T>G
XM_011515781.1:c.1238T>G XP_011514083.1:p.Phe413Cys
XM_011515782.1:c.-3-234T>G XP_011514084.1:n.-3-234T>G
XM_011515782.2:c.-3-234T>G XP_011514084.1:n.-3-234T>G
XM_017011739.1:c.788T>G XP_016867228.1:p.Phe263Cys
XM_017011740.1:c.788T>G XP_016867229.1:p.Phe263Cys
NM_000083.3:c.1238T>G MANE Select NP_000074.3:p.Phe413Cys
NR_046453.2:n.1343T>G
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