Canonical Allele Identifier: CA338644803

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381980C>A (hg19) ; chr1:g.16055485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055485C>A , CM000663.2:g.16055485C>A	GRCh38
NC_000001.10:g.16381980C>A , CM000663.1:g.16381980C>A	GRCh37
NC_000001.9:g.16254567C>A	NCBI36
NG_013079.1:g.16734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1807C>A	ENSP00000507062.1:p.Leu603Met
ENST00000682793.1:c.1807C>A	ENSP00000506910.1:p.Leu603Met
ENST00000682838.1:c.*1549C>A	ENSP00000507652.1:n.*1549C>A
ENST00000683578.1:c.1807C>A	ENSP00000507430.1:p.Leu603Met
ENST00000683606.1:n.1413C>A
ENST00000683661.1:n.3342C>A
ENST00000684324.1:c.1807C>A	ENSP00000507937.1:p.Leu603Met
ENST00000684545.1:c.1807C>A	ENSP00000506733.1:p.Leu603Met
ENST00000684624.1:n.1184C>A
ENST00000684714.1:c.*27C>A	ENSP00000506861.1:n.*27C>A
ENST00000684731.1:n.1134C>A
ENST00000375679.9:c.1807C>A MANE Select	ENSP00000364831.5:p.Leu603Met
ENST00000375667.7:c.1300C>A	ENSP00000364819.3:p.Leu434Met
ENST00000375679.8:c.1807C>A	ENSP00000364831.4:p.Leu603Met
ENST00000431772.1:c.274C>A	ENSP00000389344.1:p.Leu92Met
ENST00000619181.4:c.1294-1702C>A	ENSP00000483866.1:n.1294-1702C>A
NM_000085.4:c.1807C>A	NP_000076.2:p.Leu603Met
NM_001165945.2:c.1300C>A	NP_001159417.2:p.Leu434Met
XM_011540619.1:c.1648C>A	XP_011538921.1:p.Leu550Met
XM_011540621.1:c.1156C>A	XP_011538923.1:p.Leu386Met
NM_000085.5:c.1807C>A MANE Select	NP_000076.2:p.Leu603Met