Canonical Allele Identifier: CA338641951

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16378704T>A (hg19) ; chr1:g.16052209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052209T>A , CM000663.2:g.16052209T>A	GRCh38
NC_000001.10:g.16378704T>A , CM000663.1:g.16378704T>A	GRCh37
NC_000001.9:g.16251291T>A	NCBI36
NG_013079.1:g.13458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1420T>A	ENSP00000507062.1:p.Phe474Ile
ENST00000682793.1:c.1420T>A	ENSP00000506910.1:p.Phe474Ile
ENST00000682838.1:c.*1162T>A	ENSP00000507652.1:n.*1162T>A
ENST00000683578.1:c.1420T>A	ENSP00000507430.1:p.Phe474Ile
ENST00000683606.1:n.1026T>A
ENST00000683661.1:n.2955T>A
ENST00000684324.1:c.1420T>A	ENSP00000507937.1:p.Phe474Ile
ENST00000684545.1:c.1420T>A	ENSP00000506733.1:p.Phe474Ile
ENST00000684624.1:n.797T>A
ENST00000684714.1:c.1420T>A	ENSP00000506861.1:p.Phe474Ile
ENST00000684731.1:n.881T>A
ENST00000375679.9:c.1420T>A MANE Select	ENSP00000364831.5:p.Phe474Ile
ENST00000375667.7:c.913T>A	ENSP00000364819.3:p.Phe305Ile
ENST00000375679.8:c.1420T>A	ENSP00000364831.4:p.Phe474Ile
ENST00000619181.4:c.1039T>A	ENSP00000483866.1:p.Phe347Ile
NM_000085.4:c.1420T>A	NP_000076.2:p.Phe474Ile
NM_001165945.2:c.913T>A	NP_001159417.2:p.Phe305Ile
XM_011540619.1:c.1261T>A	XP_011538921.1:p.Phe421Ile
XM_011540620.1:c.1420T>A	XP_011538922.1:p.Phe474Ile
XM_011540621.1:c.769T>A	XP_011538923.1:p.Phe257Ile
NM_000085.5:c.1420T>A MANE Select	NP_000076.2:p.Phe474Ile