Canonical Allele Identifier: CA4537341

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2940012
• ClinVar RCV Id: RCV003797370
• dbSNP Id: rs781421246
• ExAC: 7:143029969 A / ACTGCTC
• gnomAD v2: 7-143029969-A-ACTGCTC
• gnomAD v4: 7-143332876-A-ACTGCTC
• MyVariant Identifiers: chr7:g.143029969_143029970insCTGCTC (hg19) ; chr7:g.143332876_143332877insCTGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332880_143332885dup , CM000669.2:g.143332880_143332885dup	GRCh38
NC_000007.13:g.143029973_143029978dup , CM000669.1:g.143029973_143029978dup	GRCh37
NC_000007.12:g.142740095_142740100dup	NCBI36
NG_009815.1:g.21755_21760dup
NG_009815.2:g.21755_21760dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1401+7_1401+12dup	ENSP00000498052.2:n.1401+7_1401+12dup
ENST00000343257.7:c.1401+7_1401+12dup MANE Select	ENSP00000339867.2:n.1401+7_1401+12dup
ENST00000432192.6:c.1225+7_1225+12dup
ENST00000343257.6:c.1401+7_1401+12dup	ENSP00000339867.2:n.1401+7_1401+12dup
NM_000083.2:c.1401+7_1401+12dup	NP_000074.2:n.1401+7_1401+12dup
NR_046453.1:n.1341+377_1341+382dup
XM_011515781.1:c.1425+7_1425+12dup	XP_011514083.1:n.1425+7_1425+12dup
XM_011515782.1:c.147+7_147+12dup	XP_011514084.1:n.147+7_147+12dup
XM_011515782.2:c.147+7_147+12dup	XP_011514084.1:n.147+7_147+12dup
XM_017011739.1:c.975+7_975+12dup	XP_016867228.1:n.975+7_975+12dup
XM_017011740.1:c.951+7_951+12dup	XP_016867229.1:n.951+7_951+12dup
NM_000083.3:c.1401+7_1401+12dup MANE Select	NP_000074.3:n.1401+7_1401+12dup
NR_046453.2:n.1356+377_1356+382dup