Canonical Allele Identifier: CA658657736

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 447074
• ClinVar RCV Id: RCV000638230 ; RCV000518248
• dbSNP Id: rs1554436419
• PubMed: PMID:7874130 ; PMID:8533761 ; PMID:18337100

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330816_143330817delinsTA , CM000669.2:g.143330816_143330817delinsTA	GRCh38
NC_000007.13:g.143027909_143027910delinsTA , CM000669.1:g.143027909_143027910delinsTA	GRCh37
NC_000007.12:g.142738031_142738032delinsTA	NCBI36
NG_009815.1:g.19691_19692delinsTA
NG_009815.2:g.19691_19692delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.898_899delinsTA	ENSP00000498052.2:p.Arg300Ter
ENST00000343257.7:c.898_899delinsTA MANE Select	ENSP00000339867.2:p.Arg300Ter
ENST00000432192.6:c.722_723delinsTA
ENST00000455478.6:c.486_487delinsTA	ENSP00000400027.2:n.486_487delinsTA
ENST00000650516.1:c.898_899delinsTA	ENSP00000498052.1:p.Arg300Ter
ENST00000343257.6:c.898_899delinsTA	ENSP00000339867.2:p.Arg300Ter
ENST00000432192.5:c.412_413delinsTA
ENST00000455478.5:c.490_491delinsTA
ENST00000495612.1:n.199_200delinsTA
NM_000083.2:c.898_899delinsTA	NP_000074.2:p.Arg300Ter
NR_046453.1:n.988_989delinsTA
XM_011515781.1:c.898_899delinsTA	XP_011514083.1:p.Arg300Ter
XM_017011739.1:c.448_449delinsTA	XP_016867228.1:p.Arg150Ter
XM_017011740.1:c.448_449delinsTA	XP_016867229.1:p.Arg150Ter
NM_000083.3:c.898_899delinsTA MANE Select	NP_000074.3:p.Arg300Ter
NR_046453.2:n.1003_1004delinsTA