Canonical Allele Identifier: CA913184850

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17547
• ClinVar RCV Id: RCV000019101
• dbSNP Id: rs1586496726

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330816_143330818delinsTGA , CM000669.2:g.143330816_143330818delinsTGA	GRCh38
NC_000007.13:g.143027909_143027911delinsTGA , CM000669.1:g.143027909_143027911delinsTGA	GRCh37
NC_000007.12:g.142738031_142738033delinsTGA	NCBI36
NG_009815.1:g.19691_19693delinsTGA
NG_009815.2:g.19691_19693delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.898_900delinsTGA	ENSP00000498052.2:p.Arg300Ter
ENST00000343257.7:c.898_900delinsTGA MANE Select	ENSP00000339867.2:p.Arg300Ter
ENST00000432192.6:c.722_724delinsTGA
ENST00000455478.6:c.486_488delinsTGA	ENSP00000400027.2:n.486_488delinsTGA
ENST00000650516.1:c.898_900delinsTGA	ENSP00000498052.1:p.Arg300Ter
ENST00000343257.6:c.898_900delinsTGA	ENSP00000339867.2:p.Arg300Ter
ENST00000432192.5:c.412_414delinsTGA
ENST00000455478.5:c.490_492delinsTGA
ENST00000495612.1:n.199_201delinsTGA
NM_000083.2:c.898_900delinsTGA	NP_000074.2:p.Arg300Ter
NR_046453.1:n.988_990delinsTGA
XM_011515781.1:c.898_900delinsTGA	XP_011514083.1:p.Arg300Ter
XM_017011739.1:c.448_450delinsTGA	XP_016867228.1:p.Arg150Ter
XM_017011740.1:c.448_450delinsTGA	XP_016867229.1:p.Arg150Ter
NM_000083.3:c.898_900delinsTGA MANE Select	NP_000074.3:p.Arg300Ter
NR_046453.2:n.1003_1005delinsTGA