Canonical Allele Identifier: CA652113662

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802745749
• gnomAD v3: 7-143332277-G-GT
• gnomAD v4: 7-143332277-G-GT
• COSMIC: COSN18746269 ; COSN18746297

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332277_143332278insT , CM000669.2:g.143332277_143332278insT	GRCh38
NC_000007.13:g.143029370_143029371insT , CM000669.1:g.143029370_143029371insT	GRCh37
NC_000007.12:g.142739492_142739493insT	NCBI36
NG_009815.1:g.21152_21153insT
NG_009815.2:g.21152_21153insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-142_1167-141insT	ENSP00000498052.2:n.1167-142_1167-141insT
ENST00000343257.7:c.1167-142_1167-141insT MANE Select	ENSP00000339867.2:n.1167-142_1167-141insT
ENST00000432192.6:c.991-142_991-141insT
ENST00000343257.6:c.1167-142_1167-141insT	ENSP00000339867.2:n.1167-142_1167-141insT
NM_000083.2:c.1167-142_1167-141insT	NP_000074.2:n.1167-142_1167-141insT
NR_046453.1:n.1257-142_1257-141insT
XM_011515781.1:c.1167-142_1167-141insT	XP_011514083.1:n.1167-142_1167-141insT
XM_011515782.1:c.-3-447_-3-446insT	XP_011514084.1:n.-3-447_-3-446insT
XM_011515782.2:c.-3-447_-3-446insT	XP_011514084.1:n.-3-447_-3-446insT
XM_017011739.1:c.717-142_717-141insT	XP_016867228.1:n.717-142_717-141insT
XM_017011740.1:c.717-142_717-141insT	XP_016867229.1:n.717-142_717-141insT
NM_000083.3:c.1167-142_1167-141insT MANE Select	NP_000074.3:n.1167-142_1167-141insT
NR_046453.2:n.1272-142_1272-141insT