Canonical Allele Identifier: CA18335963

Gene: CLCNKB

Linked Data

• dbSNP Id: rs745503758
• gnomAD v2: 1-16378134-C-T
• gnomAD v3: 1-16051639-C-T
• gnomAD v4: 1-16051639-C-T
• MyVariant Identifiers: chr1:g.16378134C>T (hg19) ; chr1:g.16051639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051639C>T , CM000663.2:g.16051639C>T	GRCh38
NC_000001.10:g.16378134C>T , CM000663.1:g.16378134C>T	GRCh37
NC_000001.9:g.16250721C>T	NCBI36
NG_013079.1:g.12888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1298-71C>T	ENSP00000507062.1:n.1298-71C>T
ENST00000682793.1:c.1298-71C>T	ENSP00000506910.1:n.1298-71C>T
ENST00000682838.1:c.*1040-71C>T	ENSP00000507652.1:n.*1040-71C>T
ENST00000683578.1:c.1298-71C>T	ENSP00000507430.1:n.1298-71C>T
ENST00000683606.1:n.913-71C>T
ENST00000683661.1:n.2833-71C>T
ENST00000684324.1:c.1298-71C>T	ENSP00000507937.1:n.1298-71C>T
ENST00000684545.1:c.1298-71C>T	ENSP00000506733.1:n.1298-71C>T
ENST00000684624.1:n.675-71C>T
ENST00000684714.1:c.1298-71C>T	ENSP00000506861.1:n.1298-71C>T
ENST00000684731.1:n.759-71C>T
ENST00000375679.9:c.1298-71C>T MANE Select	ENSP00000364831.5:n.1298-71C>T
ENST00000375667.7:c.791-71C>T	ENSP00000364819.3:n.791-71C>T
ENST00000375679.8:c.1298-71C>T	ENSP00000364831.4:n.1298-71C>T
ENST00000619181.4:c.917-71C>T	ENSP00000483866.1:n.917-71C>T
NM_000085.4:c.1298-71C>T	NP_000076.2:n.1298-71C>T
NM_001165945.2:c.791-71C>T	NP_001159417.2:n.791-71C>T
XM_011540619.1:c.1139-71C>T	XP_011538921.1:n.1139-71C>T
XM_011540620.1:c.1298-71C>T	XP_011538922.1:n.1298-71C>T
XM_011540621.1:c.647-71C>T	XP_011538923.1:n.647-71C>T
NM_000085.5:c.1298-71C>T MANE Select	NP_000076.2:n.1298-71C>T