Canonical Allele Identifier: CA338644769

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16381975A>T (hg19) ; chr1:g.16055480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055480A>T , CM000663.2:g.16055480A>T	GRCh38
NC_000001.10:g.16381975A>T , CM000663.1:g.16381975A>T	GRCh37
NC_000001.9:g.16254562A>T	NCBI36
NG_013079.1:g.16729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1802A>T	ENSP00000507062.1:p.Gln601Leu
ENST00000682793.1:c.1802A>T	ENSP00000506910.1:p.Gln601Leu
ENST00000682838.1:c.*1544A>T	ENSP00000507652.1:n.*1544A>T
ENST00000683578.1:c.1802A>T	ENSP00000507430.1:p.Gln601Leu
ENST00000683606.1:n.1408A>T
ENST00000683661.1:n.3337A>T
ENST00000684324.1:c.1802A>T	ENSP00000507937.1:p.Gln601Leu
ENST00000684545.1:c.1802A>T	ENSP00000506733.1:p.Gln601Leu
ENST00000684624.1:n.1179A>T
ENST00000684714.1:c.*22A>T	ENSP00000506861.1:n.*22A>T
ENST00000684731.1:n.1129A>T
ENST00000375679.9:c.1802A>T MANE Select	ENSP00000364831.5:p.Gln601Leu
ENST00000375667.7:c.1295A>T	ENSP00000364819.3:p.Gln432Leu
ENST00000375679.8:c.1802A>T	ENSP00000364831.4:p.Gln601Leu
ENST00000431772.1:c.269A>T	ENSP00000389344.1:p.Gln90Leu
ENST00000619181.4:c.1294-1707A>T	ENSP00000483866.1:n.1294-1707A>T
NM_000085.4:c.1802A>T	NP_000076.2:p.Gln601Leu
NM_001165945.2:c.1295A>T	NP_001159417.2:p.Gln432Leu
XM_011540619.1:c.1643A>T	XP_011538921.1:p.Gln548Leu
XM_011540621.1:c.1151A>T	XP_011538923.1:p.Gln384Leu
NM_000085.5:c.1802A>T MANE Select	NP_000076.2:p.Gln601Leu