Canonical Allele Identifier: CA4536952

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 462844
• ClinVar RCV Id: RCV000550058 ; RCV002289753 ; RCV002473050
• dbSNP Id: rs753470655
• ExAC: 7:143018453 C / CGCA
• gnomAD v2: 7-143018453-C-CGCA
• gnomAD v3: 7-143321360-C-CGCA
• gnomAD v4: 7-143321360-C-CGCA
• MyVariant Identifiers: chr7:g.143018456_143018458dup (hg19) ; chr7:g.143018453_143018454insGCA (hg19) ; chr7:g.143321363_143321365dup (hg38) ; chr7:g.143321360_143321361insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321363_143321365dup , CM000669.2:g.143321363_143321365dup	GRCh38
NC_000007.13:g.143018456_143018458dup , CM000669.1:g.143018456_143018458dup	GRCh37
NC_000007.12:g.142728578_142728580dup	NCBI36
NG_009815.1:g.10238_10240dup
NG_009815.2:g.10238_10240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-2_434dup
ENST00000343257.7:c.434-2_434dup
ENST00000432192.6:c.202-2_202dup
ENST00000650516.1:c.434-2_434dup
ENST00000343257.6:c.434-2_434dup
NM_000083.2:c.434-2_434dup
NR_046453.1:n.521-2_521dup
XM_011515781.1:c.434-2_434dup
XM_017011739.1:c.141-2_141dup
XM_017011740.1:c.141-2_141dup
NM_000083.3:c.434-2_434dup
NR_046453.2:n.536-2_536dup