Canonical Allele Identifier: CA2643564802

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055430-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055430G>T , CM000663.2:g.16055430G>T	GRCh38
NC_000001.10:g.16381925G>T , CM000663.1:g.16381925G>T	GRCh37
NC_000001.9:g.16254512G>T	NCBI36
NG_013079.1:g.16679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1757-5G>T	ENSP00000507062.1:n.1757-5G>T
ENST00000682793.1:c.1757-5G>T	ENSP00000506910.1:n.1757-5G>T
ENST00000682838.1:c.*1499-5G>T	ENSP00000507652.1:n.*1499-5G>T
ENST00000683578.1:c.1757-5G>T	ENSP00000507430.1:n.1757-5G>T
ENST00000683606.1:n.1363-5G>T
ENST00000683661.1:n.3292-5G>T
ENST00000684324.1:c.1757-5G>T	ENSP00000507937.1:n.1757-5G>T
ENST00000684545.1:c.1757-5G>T	ENSP00000506733.1:n.1757-5G>T
ENST00000684624.1:n.1134-5G>T
ENST00000684714.1:c.1708-5G>T	ENSP00000506861.1:n.1708-5G>T
ENST00000684731.1:n.1084-5G>T
ENST00000375679.9:c.1757-5G>T MANE Select	ENSP00000364831.5:n.1757-5G>T
ENST00000375667.7:c.1250-5G>T	ENSP00000364819.3:n.1250-5G>T
ENST00000375679.8:c.1757-5G>T	ENSP00000364831.4:n.1757-5G>T
ENST00000431772.1:c.224-5G>T	ENSP00000389344.1:n.224-5G>T
ENST00000619181.4:c.1293+1740G>T	ENSP00000483866.1:n.1293+1740G>T
NM_000085.4:c.1757-5G>T	NP_000076.2:n.1757-5G>T
NM_001165945.2:c.1250-5G>T	NP_001159417.2:n.1250-5G>T
XM_011540619.1:c.1598-5G>T	XP_011538921.1:n.1598-5G>T
XM_011540621.1:c.1106-5G>T	XP_011538923.1:n.1106-5G>T
NM_000085.5:c.1757-5G>T MANE Select	NP_000076.2:n.1757-5G>T