Canonical Allele Identifier: CA623337

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 2990996
• ClinVar RCV Id: RCV003849659
• dbSNP Id: rs769245131
• ExAC: 1:16374821 C / CTGG
• gnomAD v2: 1-16374821-C-CTGG
• gnomAD v3: 1-16048326-C-CTGG
• gnomAD v4: 1-16048326-C-CTGG
• MyVariant Identifiers: chr1:g.16374821_16374822insTGG (hg19) ; chr1:g.16048326_16048327insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048326_16048327insTGG , CM000663.2:g.16048326_16048327insTGG	GRCh38
NC_000001.10:g.16374821_16374822insTGG , CM000663.1:g.16374821_16374822insTGG	GRCh37
NC_000001.9:g.16247408_16247409insTGG	NCBI36
NG_013079.1:g.9575_9576insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.499-17_499-16insTGG	ENSP00000507062.1:n.499-17_499-16insTGG
ENST00000682793.1:c.499-17_499-16insTGG	ENSP00000506910.1:n.499-17_499-16insTGG
ENST00000682838.1:c.*157-17_*157-16insTGG	ENSP00000507652.1:n.*157-17_*157-16insTGG
ENST00000683578.1:c.499-17_499-16insTGG	ENSP00000507430.1:n.499-17_499-16insTGG
ENST00000683661.1:n.2034-17_2034-16insTGG
ENST00000684324.1:c.499-17_499-16insTGG	ENSP00000507937.1:n.499-17_499-16insTGG
ENST00000684545.1:c.499-17_499-16insTGG	ENSP00000506733.1:n.499-17_499-16insTGG
ENST00000684714.1:c.499-17_499-16insTGG	ENSP00000506861.1:n.499-17_499-16insTGG
ENST00000375679.9:c.499-17_499-16insTGG MANE Select	ENSP00000364831.5:n.499-17_499-16insTGG
ENST00000375679.8:c.499-17_499-16insTGG	ENSP00000364831.4:n.499-17_499-16insTGG
ENST00000619181.4:c.499-17_499-16insTGG	ENSP00000483866.1:n.499-17_499-16insTGG
NM_000085.4:c.499-17_499-16insTGG	NP_000076.2:n.499-17_499-16insTGG
XM_011540619.1:c.340-17_340-16insTGG	XP_011538921.1:n.340-17_340-16insTGG
XM_011540620.1:c.499-17_499-16insTGG	XP_011538922.1:n.499-17_499-16insTGG
NM_000085.5:c.499-17_499-16insTGG MANE Select	NP_000076.2:n.499-17_499-16insTGG