Canonical Allele Identifier: CA890090638

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1366730554
• gnomAD v4: 1-16048743-A-G
• MyVariant Identifiers: chr1:g.16375238A>G (hg19) ; chr1:g.16048743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048743A>G , CM000663.2:g.16048743A>G	GRCh38
NC_000001.10:g.16375238A>G , CM000663.1:g.16375238A>G	GRCh37
NC_000001.9:g.16247825A>G	NCBI36
NG_013079.1:g.9992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.655+161A>G	ENSP00000507062.1:n.655+161A>G
ENST00000682793.1:c.655+161A>G	ENSP00000506910.1:n.655+161A>G
ENST00000682838.1:c.*313+161A>G	ENSP00000507652.1:n.*313+161A>G
ENST00000683578.1:c.655+161A>G	ENSP00000507430.1:n.655+161A>G
ENST00000683661.1:n.2190+161A>G
ENST00000684324.1:c.655+161A>G	ENSP00000507937.1:n.655+161A>G
ENST00000684545.1:c.655+161A>G	ENSP00000506733.1:n.655+161A>G
ENST00000684714.1:c.655+161A>G	ENSP00000506861.1:n.655+161A>G
ENST00000684731.1:n.116+161A>G
ENST00000375679.9:c.655+161A>G MANE Select	ENSP00000364831.5:n.655+161A>G
ENST00000375679.8:c.655+161A>G	ENSP00000364831.4:n.655+161A>G
ENST00000619181.4:c.587+229A>G	ENSP00000483866.1:n.587+229A>G
NM_000085.4:c.655+161A>G	NP_000076.2:n.655+161A>G
XM_011540619.1:c.496+161A>G	XP_011538921.1:n.496+161A>G
XM_011540620.1:c.655+161A>G	XP_011538922.1:n.655+161A>G
XM_011540621.1:c.-285A>G	XP_011538923.1:n.-285A>G
NM_000085.5:c.655+161A>G MANE Select	NP_000076.2:n.655+161A>G