Canonical Allele Identifier: CA4537831
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143351994C>A
GRCh37 chr7:g.143049087C>A
gnomAD v2:
7:143049087 C / A
gnomAD v3:
7:143351994 C / A
gnomAD v4:
chr7-143351994-C-A
Joint Max Group AF 0.0003298 (NFE)
Genomes Max Group AF 0.000182 (NFE)
Exomes Max Group AF 0.00033376 (NFE)
ClinVar RCV:
RCV000366724
RCV003144241
ClinVar Variation:
359129
dbSNP:
202172391
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351994C>A , CM000669.2:g.143351994C>A GRCh38
NC_000007.13:g.143049087C>A , CM000669.1:g.143049087C>A GRCh37
NC_000007.12:g.142759209C>A NCBI36
NG_009815.1:g.40869C>A
NG_009815.2:g.40869C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*29C>A ENSP00000498052.2:n.*29C>A
ENST00000343257.7:c.*29C>A MANE Select ENSP00000339867.2:n.*29C>A
ENST00000343257.6:c.*29C>A ENSP00000339867.2:n.*29C>A
NM_000083.2:c.*29C>A NP_000074.2:n.*29C>A
NR_046453.1:n.2936C>A
XM_011515781.1:c.*29C>A XP_011514083.1:n.*29C>A
XM_011515782.1:c.*29C>A XP_011514084.1:n.*29C>A
XM_011515782.2:c.*29C>A XP_011514084.1:n.*29C>A
XM_017011739.1:c.*29C>A XP_016867228.1:n.*29C>A
XM_017011740.1:c.*29C>A XP_016867229.1:n.*29C>A
NM_000083.3:c.*29C>A MANE Select NP_000074.3:n.*29C>A
NR_046453.2:n.2951C>A
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