Canonical Allele Identifier: CA1108132881

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2684161
• ClinVar RCV Id: RCV003482657
• dbSNP Id: rs1803359070
• gnomAD v3: 7-143350382-G-GGGAGCA
• gnomAD v4: 7-143350382-G-GGGAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350390_143350395dup , CM000669.2:g.143350390_143350395dup	GRCh38
NC_000007.13:g.143047483_143047488dup , CM000669.1:g.143047483_143047488dup	GRCh37
NC_000007.12:g.142757605_142757610dup	NCBI36
NG_009815.1:g.39265_39270dup
NG_009815.2:g.39265_39270dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2422_2427dup	ENSP00000498052.2:p.Gln809_Leu810insGluGln
ENST00000343257.7:c.2422_2427dup MANE Select	ENSP00000339867.2:p.Gln809_Leu810insGluGln
ENST00000432192.6:c.2246_2251dup
ENST00000343257.6:c.2422_2427dup	ENSP00000339867.2:p.Gln809_Leu810insGluGln
NM_000083.2:c.2422_2427dup	NP_000074.2:p.Gln809_Leu810insGluGln
NR_046453.1:n.2362_2367dup
XM_011515781.1:c.2446_2451dup	XP_011514083.1:p.Gln817_Leu818insGluGln
XM_011515782.1:c.1168_1173dup	XP_011514084.1:p.Gln391_Leu392insGluGln
XM_011515782.2:c.1168_1173dup	XP_011514084.1:p.Gln391_Leu392insGluGln
XM_017011739.1:c.1996_2001dup	XP_016867228.1:p.Gln667_Leu668insGluGln
XM_017011740.1:c.1972_1977dup	XP_016867229.1:p.Gln659_Leu660insGluGln
NM_000083.3:c.2422_2427dup MANE Select	NP_000074.3:p.Gln809_Leu810insGluGln
NR_046453.2:n.2377_2382dup