Canonical Allele Identifier: CA416249710

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2023301141
• gnomAD v3: 1-16051729-C-G
• gnomAD v4: 1-16051729-C-G
• MyVariant Identifiers: chr1:g.16378224C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051729C>G , CM000663.2:g.16051729C>G	GRCh38
NC_000001.10:g.16378224C>G , CM000663.1:g.16378224C>G	GRCh37
NC_000001.9:g.16250811C>G	NCBI36
NG_013079.1:g.12978C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1317C>G	ENSP00000507062.1:p.Leu439=
ENST00000682793.1:c.1317C>G	ENSP00000506910.1:p.Leu439=
ENST00000682838.1:c.*1059C>G	ENSP00000507652.1:n.*1059C>G
ENST00000683578.1:c.1317C>G	ENSP00000507430.1:p.Leu439=
ENST00000683606.1:n.932C>G
ENST00000683661.1:n.2852C>G
ENST00000684324.1:c.1317C>G	ENSP00000507937.1:p.Leu439=
ENST00000684545.1:c.1317C>G	ENSP00000506733.1:p.Leu439=
ENST00000684624.1:n.694C>G
ENST00000684714.1:c.1317C>G	ENSP00000506861.1:p.Leu439=
ENST00000684731.1:n.778C>G
ENST00000375679.9:c.1317C>G MANE Select	ENSP00000364831.5:p.Leu439=
ENST00000375667.7:c.810C>G	ENSP00000364819.3:p.Leu270=
ENST00000375679.8:c.1317C>G	ENSP00000364831.4:p.Leu439=
ENST00000619181.4:c.936C>G	ENSP00000483866.1:p.Leu312=
NM_000085.4:c.1317C>G	NP_000076.2:p.Leu439=
NM_001165945.2:c.810C>G	NP_001159417.2:p.Leu270=
XM_011540619.1:c.1158C>G	XP_011538921.1:p.Leu386=
XM_011540620.1:c.1317C>G	XP_011538922.1:p.Leu439=
XM_011540621.1:c.666C>G	XP_011538923.1:p.Leu222=
NM_000085.5:c.1317C>G MANE Select	NP_000076.2:p.Leu439=