Canonical Allele Identifier: CA4536844
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143316395A>T
GRCh37 chr7:g.143013488A>T
gnomAD v2:
7:143013488 A / T
gnomAD v3:
7:143316395 A / T
gnomAD v4:
chr7-143316395-A-T
Joint Max Group AF 0.00040598 (NFE)
Genomes Max Group AF 0.00032942 (NFE)
Exomes Max Group AF 0.00040386 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143316395A>T , CM000669.2:g.143316395A>T GRCh38
NC_000007.13:g.143013488A>T , CM000669.1:g.143013488A>T GRCh37
NC_000007.12:g.142723610A>T NCBI36
NG_009815.1:g.5270A>T
NG_009815.2:g.5270A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.180+3A>T ENSP00000498052.2:n.180+3A>T
ENST00000343257.7:c.180+3A>T MANE Select ENSP00000339867.2:n.180+3A>T
ENST00000650516.1:c.180+3A>T ENSP00000498052.1:n.180+3A>T
ENST00000343257.6:c.180+3A>T ENSP00000339867.2:n.180+3A>T
NM_000083.2:c.180+3A>T NP_000074.2:n.180+3A>T
NR_046453.1:n.267+3A>T
XM_011515781.1:c.180+3A>T XP_011514083.1:n.180+3A>T
NM_000083.3:c.180+3A>T MANE Select NP_000074.3:n.180+3A>T
NR_046453.2:n.282+3A>T
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