Canonical Allele Identifier: CA1748881945

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1928575
• ClinVar RCV Id: RCV002635038
• dbSNP Id: rs1802448441

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321862G>A , CM000669.2:g.143321862G>A	GRCh38
NC_000007.13:g.143018955G>A , CM000669.1:g.143018955G>A	GRCh37
NC_000007.12:g.142729077G>A	NCBI36
NG_009815.1:g.10737G>A
NG_009815.2:g.10737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+14G>A	ENSP00000498052.2:n.696+14G>A
ENST00000343257.7:c.696+14G>A MANE Select	ENSP00000339867.2:n.696+14G>A
ENST00000432192.6:c.464+14G>A
ENST00000455478.6:c.150+14G>A	ENSP00000400027.2:n.150+14G>A
ENST00000650516.1:c.696+14G>A	ENSP00000498052.1:n.696+14G>A
ENST00000343257.6:c.696+14G>A	ENSP00000339867.2:n.696+14G>A
ENST00000432192.5:c.154+14G>A
ENST00000455478.5:c.154+14G>A
ENST00000495612.1:n.154+14G>A
NM_000083.2:c.696+14G>A	NP_000074.2:n.696+14G>A
NR_046453.1:n.783+14G>A
XM_011515781.1:c.696+14G>A	XP_011514083.1:n.696+14G>A
XM_017011739.1:c.403+14G>A	XP_016867228.1:n.403+14G>A
XM_017011740.1:c.403+14G>A	XP_016867229.1:n.403+14G>A
NM_000083.3:c.696+14G>A MANE Select	NP_000074.3:n.696+14G>A
NR_046453.2:n.798+14G>A