Canonical Allele Identifier: CA891842698

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 570543
• ClinVar RCV Id: RCV000691419
• dbSNP Id: rs1563084597
• MyVariant Identifiers: chr7:g.143039083_143039084del (hg19) ; chr7:g.143341990_143341991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341990_143341991del , CM000669.2:g.143341990_143341991del	GRCh38
NC_000007.13:g.143039083_143039084del , CM000669.1:g.143039083_143039084del	GRCh37
NC_000007.12:g.142749205_142749206del	NCBI36
NG_009815.1:g.30865_30866del
NG_009815.2:g.30865_30866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1644_1645del	ENSP00000498052.2:p.Glu548AspfsTer?
ENST00000343257.7:c.1644_1645del MANE Select	ENSP00000339867.2:p.Glu548AspfsTer?
ENST00000432192.6:c.1468_1469del
ENST00000343257.6:c.1644_1645del	ENSP00000339867.2:p.Glu548AspfsTer?
NM_000083.2:c.1644_1645del	NP_000074.2:p.Glu548AspfsTer?
NR_046453.1:n.1584_1585del
XM_011515781.1:c.1668_1669del	XP_011514083.1:p.Glu556AspfsTer?
XM_011515782.1:c.390_391del	XP_011514084.1:p.Glu130AspfsTer?
XM_011515782.2:c.390_391del	XP_011514084.1:p.Glu130AspfsTer?
XM_017011739.1:c.1218_1219del	XP_016867228.1:p.Glu406AspfsTer?
XM_017011740.1:c.1194_1195del	XP_016867229.1:p.Glu398AspfsTer?
NM_000083.3:c.1644_1645del MANE Select	NP_000074.3:p.Glu548AspfsTer?
NR_046453.2:n.1599_1600del