Canonical Allele Identifier: CA4537000

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1061734
• ClinVar RCV Id: RCV001371371
• dbSNP Id: rs201404573
• ExAC: 7:143018799 C / A
• gnomAD v2: 7-143018799-C-A
• gnomAD v3: 7-143321706-C-A
• gnomAD v4: 7-143321706-C-A
• MyVariant Identifiers: chr7:g.143018799C>A (hg19) ; chr7:g.143321706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321706C>A , CM000669.2:g.143321706C>A	GRCh38
NC_000007.13:g.143018799C>A , CM000669.1:g.143018799C>A	GRCh37
NC_000007.12:g.142728921C>A	NCBI36
NG_009815.1:g.10581C>A
NG_009815.2:g.10581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.563-9C>A	ENSP00000498052.2:n.563-9C>A
ENST00000343257.7:c.563-9C>A MANE Select	ENSP00000339867.2:n.563-9C>A
ENST00000432192.6:c.331-9C>A
ENST00000455478.6:c.17-9C>A	ENSP00000400027.2:n.17-9C>A
ENST00000650516.1:c.563-9C>A	ENSP00000498052.1:n.563-9C>A
ENST00000343257.6:c.563-9C>A	ENSP00000339867.2:n.563-9C>A
ENST00000432192.5:c.21-9C>A
ENST00000455478.5:c.21-9C>A
ENST00000495612.1:n.21-9C>A
NM_000083.2:c.563-9C>A	NP_000074.2:n.563-9C>A
NR_046453.1:n.650-9C>A
XM_011515781.1:c.563-9C>A	XP_011514083.1:n.563-9C>A
XM_017011739.1:c.270-9C>A	XP_016867228.1:n.270-9C>A
XM_017011740.1:c.270-9C>A	XP_016867229.1:n.270-9C>A
NM_000083.3:c.563-9C>A MANE Select	NP_000074.3:n.563-9C>A
NR_046453.2:n.665-9C>A