Canonical Allele Identifier: CA4537432

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1564891
• ClinVar RCV Id: RCV002212957
• dbSNP Id: rs371387287
• ExAC: 7:143039002 G / A
• gnomAD v2: 7-143039002-G-A
• gnomAD v3: 7-143341909-G-A
• gnomAD v4: 7-143341909-G-A
• MyVariant Identifiers: chr7:g.143039002G>A (hg19) ; chr7:g.143341909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341909G>A , CM000669.2:g.143341909G>A	GRCh38
NC_000007.13:g.143039002G>A , CM000669.1:g.143039002G>A	GRCh37
NC_000007.12:g.142749124G>A	NCBI36
NG_009815.1:g.30784G>A
NG_009815.2:g.30784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-20G>A	ENSP00000498052.2:n.1583-20G>A
ENST00000343257.7:c.1583-20G>A MANE Select	ENSP00000339867.2:n.1583-20G>A
ENST00000432192.6:c.1407-20G>A
ENST00000343257.6:c.1583-20G>A	ENSP00000339867.2:n.1583-20G>A
NM_000083.2:c.1583-20G>A	NP_000074.2:n.1583-20G>A
NR_046453.1:n.1523-20G>A
XM_011515781.1:c.1607-20G>A	XP_011514083.1:n.1607-20G>A
XM_011515782.1:c.329-20G>A	XP_011514084.1:n.329-20G>A
XM_011515782.2:c.329-20G>A	XP_011514084.1:n.329-20G>A
XM_017011739.1:c.1157-20G>A	XP_016867228.1:n.1157-20G>A
XM_017011740.1:c.1133-20G>A	XP_016867229.1:n.1133-20G>A
NM_000083.3:c.1583-20G>A MANE Select	NP_000074.3:n.1583-20G>A
NR_046453.2:n.1538-20G>A