Canonical Allele Identifier: CA2593386463

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2124090378
• gnomAD v3: 1-16048253-A-AG
• gnomAD v4: 1-16048253-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048258dup , CM000663.2:g.16048258dup	GRCh38
NC_000001.10:g.16374753dup , CM000663.1:g.16374753dup	GRCh37
NC_000001.9:g.16247340dup	NCBI36
NG_013079.1:g.9507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.499-85dup	ENSP00000507062.1:n.499-85dup
ENST00000682793.1:c.499-85dup	ENSP00000506910.1:n.499-85dup
ENST00000682838.1:c.*157-85dup	ENSP00000507652.1:n.*157-85dup
ENST00000683578.1:c.499-85dup	ENSP00000507430.1:n.499-85dup
ENST00000683661.1:n.2034-85dup
ENST00000684324.1:c.499-85dup	ENSP00000507937.1:n.499-85dup
ENST00000684545.1:c.499-85dup	ENSP00000506733.1:n.499-85dup
ENST00000684714.1:c.499-85dup	ENSP00000506861.1:n.499-85dup
ENST00000375679.9:c.499-85dup MANE Select	ENSP00000364831.5:n.499-85dup
ENST00000375679.8:c.499-85dup	ENSP00000364831.4:n.499-85dup
ENST00000619181.4:c.499-85dup	ENSP00000483866.1:n.499-85dup
NM_000085.4:c.499-85dup	NP_000076.2:n.499-85dup
XM_011540619.1:c.340-85dup	XP_011538921.1:n.340-85dup
XM_011540620.1:c.499-85dup	XP_011538922.1:n.499-85dup
NM_000085.5:c.499-85dup MANE Select	NP_000076.2:n.499-85dup