Canonical Allele Identifier: CA338644636

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381939T>G (hg19) ; chr1:g.16055444T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055444T>G , CM000663.2:g.16055444T>G	GRCh38
NC_000001.10:g.16381939T>G , CM000663.1:g.16381939T>G	GRCh37
NC_000001.9:g.16254526T>G	NCBI36
NG_013079.1:g.16693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1766T>G	ENSP00000507062.1:p.Ile589Ser
ENST00000682793.1:c.1766T>G	ENSP00000506910.1:p.Ile589Ser
ENST00000682838.1:c.*1508T>G	ENSP00000507652.1:n.*1508T>G
ENST00000683578.1:c.1766T>G	ENSP00000507430.1:p.Ile589Ser
ENST00000683606.1:n.1372T>G
ENST00000683661.1:n.3301T>G
ENST00000684324.1:c.1766T>G	ENSP00000507937.1:p.Ile589Ser
ENST00000684545.1:c.1766T>G	ENSP00000506733.1:p.Ile589Ser
ENST00000684624.1:n.1143T>G
ENST00000684714.1:c.1717T>G	ENSP00000506861.1:p.Ser573Ala
ENST00000684731.1:n.1093T>G
ENST00000375679.9:c.1766T>G MANE Select	ENSP00000364831.5:p.Ile589Ser
ENST00000375667.7:c.1259T>G	ENSP00000364819.3:p.Ile420Ser
ENST00000375679.8:c.1766T>G	ENSP00000364831.4:p.Ile589Ser
ENST00000431772.1:c.233T>G	ENSP00000389344.1:p.Ile78Ser
ENST00000619181.4:c.1294-1743T>G	ENSP00000483866.1:n.1294-1743T>G
NM_000085.4:c.1766T>G	NP_000076.2:p.Ile589Ser
NM_001165945.2:c.1259T>G	NP_001159417.2:p.Ile420Ser
XM_011540619.1:c.1607T>G	XP_011538921.1:p.Ile536Ser
XM_011540621.1:c.1115T>G	XP_011538923.1:p.Ile372Ser
NM_000085.5:c.1766T>G MANE Select	NP_000076.2:p.Ile589Ser