Canonical Allele Identifier: CA338634844

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16048352-G-T
• MyVariant Identifiers: chr1:g.16374847G>T (hg19) ; chr1:g.16048352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048352G>T , CM000663.2:g.16048352G>T	GRCh38
NC_000001.10:g.16374847G>T , CM000663.1:g.16374847G>T	GRCh37
NC_000001.9:g.16247434G>T	NCBI36
NG_013079.1:g.9601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.508G>T	ENSP00000507062.1:p.Val170Leu
ENST00000682793.1:c.508G>T	ENSP00000506910.1:p.Val170Leu
ENST00000682838.1:c.*166G>T	ENSP00000507652.1:n.*166G>T
ENST00000683578.1:c.508G>T	ENSP00000507430.1:p.Val170Leu
ENST00000683661.1:n.2043G>T
ENST00000684324.1:c.508G>T	ENSP00000507937.1:p.Val170Leu
ENST00000684545.1:c.508G>T	ENSP00000506733.1:p.Val170Leu
ENST00000684714.1:c.508G>T	ENSP00000506861.1:p.Val170Leu
ENST00000375679.9:c.508G>T MANE Select	ENSP00000364831.5:p.Val170Leu
ENST00000375679.8:c.508G>T	ENSP00000364831.4:p.Val170Leu
ENST00000619181.4:c.508G>T	ENSP00000483866.1:p.Val170Leu
NM_000085.4:c.508G>T	NP_000076.2:p.Val170Leu
XM_011540619.1:c.349G>T	XP_011538921.1:p.Val117Leu
XM_011540620.1:c.508G>T	XP_011538922.1:p.Val170Leu
NM_000085.5:c.508G>T MANE Select	NP_000076.2:p.Val170Leu