Canonical Allele Identifier: CA913189917

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 624303
• ClinVar RCV Id: RCV000762483
• dbSNP Id: rs1563074191
• gnomAD v3: 7-143321362-CAGCCT-C
• gnomAD v4: 7-143321362-CAGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321364_143321368del , CM000669.2:g.143321364_143321368del	GRCh38
NC_000007.13:g.143018457_143018461del , CM000669.1:g.143018457_143018461del	GRCh37
NC_000007.12:g.142728579_142728583del	NCBI36
NG_009815.1:g.10239_10243del
NG_009815.2:g.10239_10243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-1_437del
ENST00000343257.7:c.434-1_437del
ENST00000432192.6:c.202-1_205del
ENST00000650516.1:c.434-1_437del
ENST00000343257.6:c.434-1_437del
NM_000083.2:c.434-1_437del
NR_046453.1:n.521-1_524del
XM_011515781.1:c.434-1_437del
XM_017011739.1:c.141-1_144del
XM_017011740.1:c.141-1_144del
NM_000083.3:c.434-1_437del
NR_046453.2:n.536-1_539del