Canonical Allele Identifier: CA2573052830

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1322087
• ClinVar RCV Id: RCV001780507
• dbSNP Id: rs2116855176

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332759del , CM000669.2:g.143332759del	GRCh38
NC_000007.13:g.143029852del , CM000669.1:g.143029852del	GRCh37
NC_000007.12:g.142739974del	NCBI36
NG_009815.1:g.21634del
NG_009815.2:g.21634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1287del	ENSP00000498052.2:p.Asp429GlufsTer6
ENST00000343257.7:c.1287del MANE Select	ENSP00000339867.2:p.Asp429GlufsTer6
ENST00000432192.6:c.1111del
ENST00000343257.6:c.1287del	ENSP00000339867.2:p.Asp429GlufsTer6
NM_000083.2:c.1287del	NP_000074.2:p.Asp429GlufsTer6
NR_046453.1:n.1341+256del
XM_011515781.1:c.1311del	XP_011514083.1:p.Asp437GlufsTer6
XM_011515782.1:c.33del	XP_011514084.1:p.Asp11GlufsTer6
XM_011515782.2:c.33del	XP_011514084.1:p.Asp11GlufsTer6
XM_017011739.1:c.861del	XP_016867228.1:p.Asp287GlufsTer6
XM_017011740.1:c.837del	XP_016867229.1:p.Asp279GlufsTer6
NM_000083.3:c.1287del MANE Select	NP_000074.3:p.Asp429GlufsTer6
NR_046453.2:n.1356+256del