Canonical Allele Identifier: CA4537751
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143351593G>A
GRCh37 chr7:g.143048686G>A
gnomAD v2:
7:143048686 G / A
gnomAD v3:
7:143351593 G / A
gnomAD v4:
chr7-143351593-G-A
Joint Max Group AF 0.00007248 (AFR)
Genomes Max Group AF 0.00003261 (AFR)
Exomes Max Group AF 0.00007713 (AFR)
ClinVar Allele:
444076
ClinVar RCV:
RCV000522584
RCV000813032
ClinVar Variation:
449534
dbSNP:
771721648
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351593G>A , CM000669.2:g.143351593G>A GRCh38
NC_000007.13:g.143048686G>A , CM000669.1:g.143048686G>A GRCh37
NC_000007.12:g.142758808G>A NCBI36
NG_009815.1:g.40468G>A
NG_009815.2:g.40468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2596-1G>A ENSP00000498052.2:n.2596-1G>A
ENST00000343257.7:c.2596-1G>A MANE Select ENSP00000339867.2:n.2596-1G>A
ENST00000432192.6:c.2420-1G>A
ENST00000343257.6:c.2596-1G>A ENSP00000339867.2:n.2596-1G>A
NM_000083.2:c.2596-1G>A NP_000074.2:n.2596-1G>A
NR_046453.1:n.2536-1G>A
XM_011515781.1:c.2620-1G>A XP_011514083.1:n.2620-1G>A
XM_011515782.1:c.1342-1G>A XP_011514084.1:n.1342-1G>A
XM_011515782.2:c.1342-1G>A XP_011514084.1:n.1342-1G>A
XM_017011739.1:c.2170-1G>A XP_016867228.1:n.2170-1G>A
XM_017011740.1:c.2146-1G>A XP_016867229.1:n.2146-1G>A
NM_000083.3:c.2596-1G>A MANE Select NP_000074.3:n.2596-1G>A
NR_046453.2:n.2551-1G>A
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