Canonical Allele Identifier: CA416250920

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16052208-C-T
• MyVariant Identifiers: chr1:g.16378703C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052208C>T , CM000663.2:g.16052208C>T	GRCh38
NC_000001.10:g.16378703C>T , CM000663.1:g.16378703C>T	GRCh37
NC_000001.9:g.16251290C>T	NCBI36
NG_013079.1:g.13457C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1419C>T	ENSP00000507062.1:p.Ala473=
ENST00000682793.1:c.1419C>T	ENSP00000506910.1:p.Ala473=
ENST00000682838.1:c.*1161C>T	ENSP00000507652.1:n.*1161C>T
ENST00000683578.1:c.1419C>T	ENSP00000507430.1:p.Ala473=
ENST00000683606.1:n.1025C>T
ENST00000683661.1:n.2954C>T
ENST00000684324.1:c.1419C>T	ENSP00000507937.1:p.Ala473=
ENST00000684545.1:c.1419C>T	ENSP00000506733.1:p.Ala473=
ENST00000684624.1:n.796C>T
ENST00000684714.1:c.1419C>T	ENSP00000506861.1:p.Ala473=
ENST00000684731.1:n.880C>T
ENST00000375679.9:c.1419C>T MANE Select	ENSP00000364831.5:p.Ala473=
ENST00000375667.7:c.912C>T	ENSP00000364819.3:p.Ala304=
ENST00000375679.8:c.1419C>T	ENSP00000364831.4:p.Ala473=
ENST00000619181.4:c.1038C>T	ENSP00000483866.1:p.Ala346=
NM_000085.4:c.1419C>T	NP_000076.2:p.Ala473=
NM_001165945.2:c.912C>T	NP_001159417.2:p.Ala304=
XM_011540619.1:c.1260C>T	XP_011538921.1:p.Ala420=
XM_011540620.1:c.1419C>T	XP_011538922.1:p.Ala473=
XM_011540621.1:c.768C>T	XP_011538923.1:p.Ala256=
NM_000085.5:c.1419C>T MANE Select	NP_000076.2:p.Ala473=