Canonical Allele Identifier: CA168258849

Gene: CLCN1

Linked Data

• dbSNP Id: rs985126243
• gnomAD v4: 7-143324494-C-A
• MyVariant Identifiers: chr7:g.143021587C>A (hg19) ; chr7:g.143324494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324494C>A , CM000669.2:g.143324494C>A	GRCh38
NC_000007.13:g.143021587C>A , CM000669.1:g.143021587C>A	GRCh37
NC_000007.12:g.142731709C>A	NCBI36
NG_009815.1:g.13369C>A
NG_009815.2:g.13369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+597C>A	ENSP00000498052.2:n.853+597C>A
ENST00000343257.7:c.853+2C>A MANE Select	ENSP00000339867.2:n.853+2C>A
ENST00000432192.6:c.677+2C>A
ENST00000455478.6:c.441+2C>A	ENSP00000400027.2:n.441+2C>A
ENST00000650516.1:c.853+597C>A	ENSP00000498052.1:n.853+597C>A
ENST00000343257.6:c.853+2C>A	ENSP00000339867.2:n.853+2C>A
ENST00000432192.5:c.367+2C>A
ENST00000455478.5:c.445+2C>A
ENST00000495612.1:n.154+2646C>A
NM_000083.2:c.853+2C>A	NP_000074.2:n.853+2C>A
NR_046453.1:n.943+2C>A
XM_011515781.1:c.853+597C>A	XP_011514083.1:n.853+597C>A
XM_017011739.1:c.403+2646C>A	XP_016867228.1:n.403+2646C>A
XM_017011740.1:c.403+2646C>A	XP_016867229.1:n.403+2646C>A
NM_000083.3:c.853+2C>A MANE Select	NP_000074.3:n.853+2C>A
NR_046453.2:n.958+2C>A