Canonical Allele Identifier: CA4536784
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383612
ClinVar RCV Id: RCV000439971
dbSNP Id: rs2280663
ExAC: 7:143013292 C / A
gnomAD v2: 7-143013292-C-A
gnomAD v3: 7-143316199-C-A
gnomAD v4: 7-143316199-C-A
MyVariant Identifiers: chr7:g.143013292C>A (hg19) chr7:g.143013292_143013293delinsAG (hg19) chr7:g.143316199C>A (hg38) chr7:g.143316199_143316200delinsAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143316199C>A , CM000669.2:g.143316199C>A GRCh38
NC_000007.13:g.143013292C>A , CM000669.1:g.143013292C>A GRCh37
NC_000007.12:g.142723414C>A NCBI36
NG_009815.1:g.5074C>A
NG_009815.2:g.5074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.-14C>A ENSP00000498052.2:n.-14C>A
ENST00000343257.7:c.-14C>A MANE Select ENSP00000339867.2:n.-14C>A
ENST00000650516.1:c.-14C>A ENSP00000498052.1:n.-14C>A
ENST00000343257.6:c.-14C>A ENSP00000339867.2:n.-14C>A
NM_000083.2:c.-14C>A NP_000074.2:n.-14C>A
NR_046453.1:n.74C>A
XM_011515781.1:c.-14C>A XP_011514083.1:n.-14C>A
NM_000083.3:c.-14C>A MANE Select NP_000074.3:n.-14C>A
NR_046453.2:n.89C>A
Search 100 bp 5'
Search 100 bp 3'