Canonical Allele Identifier: CA18335914

Gene: CLCNKB

Linked Data

• dbSNP Id: rs572148719
• gnomAD v2: 1-16378111-C-A
• gnomAD v3: 1-16051616-C-A
• gnomAD v4: 1-16051616-C-A
• MyVariant Identifiers: chr1:g.16378111C>A (hg19) ; chr1:g.16051616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051616C>A , CM000663.2:g.16051616C>A	GRCh38
NC_000001.10:g.16378111C>A , CM000663.1:g.16378111C>A	GRCh37
NC_000001.9:g.16250698C>A	NCBI36
NG_013079.1:g.12865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1297+69C>A	ENSP00000507062.1:n.1297+69C>A
ENST00000682793.1:c.1297+69C>A	ENSP00000506910.1:n.1297+69C>A
ENST00000682838.1:c.*1039+69C>A	ENSP00000507652.1:n.*1039+69C>A
ENST00000683578.1:c.1297+69C>A	ENSP00000507430.1:n.1297+69C>A
ENST00000683606.1:n.912+69C>A
ENST00000683661.1:n.2832+69C>A
ENST00000684324.1:c.1297+69C>A	ENSP00000507937.1:n.1297+69C>A
ENST00000684545.1:c.1297+69C>A	ENSP00000506733.1:n.1297+69C>A
ENST00000684624.1:n.674+69C>A
ENST00000684714.1:c.1297+69C>A	ENSP00000506861.1:n.1297+69C>A
ENST00000684731.1:n.758+69C>A
ENST00000375679.9:c.1297+69C>A MANE Select	ENSP00000364831.5:n.1297+69C>A
ENST00000375667.7:c.790+69C>A	ENSP00000364819.3:n.790+69C>A
ENST00000375679.8:c.1297+69C>A	ENSP00000364831.4:n.1297+69C>A
ENST00000619181.4:c.916+69C>A	ENSP00000483866.1:n.916+69C>A
NM_000085.4:c.1297+69C>A	NP_000076.2:n.1297+69C>A
NM_001165945.2:c.790+69C>A	NP_001159417.2:n.790+69C>A
XM_011540619.1:c.1138+69C>A	XP_011538921.1:n.1138+69C>A
XM_011540620.1:c.1297+69C>A	XP_011538922.1:n.1297+69C>A
XM_011540621.1:c.646+69C>A	XP_011538923.1:n.646+69C>A
NM_000085.5:c.1297+69C>A MANE Select	NP_000076.2:n.1297+69C>A