Canonical Allele Identifier: CA369676375
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143316225C>T
GRCh37 chr7:g.143013318C>T
Revel Score:
ENST00000343257 (MANE Select) 0.331
gnomAD v2:
7:143013318 C / T
gnomAD v3:
7:143316225 C / T
gnomAD v4:
chr7-143316225-C-T
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV000605421
RCV001860307
ClinVar Variation:
513471
dbSNP:
1322496244
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143316225C>T , CM000669.2:g.143316225C>T GRCh38
NC_000007.13:g.143013318C>T , CM000669.1:g.143013318C>T GRCh37
NC_000007.12:g.142723440C>T NCBI36
NG_009815.1:g.5100C>T
NG_009815.2:g.5100C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.13C>T ENSP00000498052.2:p.Arg5Trp
ENST00000343257.7:c.13C>T MANE Select ENSP00000339867.2:p.Arg5Trp
ENST00000650516.1:c.13C>T ENSP00000498052.1:p.Arg5Trp
ENST00000343257.6:c.13C>T ENSP00000339867.2:p.Arg5Trp
NM_000083.2:c.13C>T NP_000074.2:p.Arg5Trp
NR_046453.1:n.100C>T
XM_011515781.1:c.13C>T XP_011514083.1:p.Arg5Trp
NM_000083.3:c.13C>T MANE Select NP_000074.3:p.Arg5Trp
NR_046453.2:n.115C>T
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