Canonical Allele Identifier: CA338643922

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16053751-T-A
• MyVariant Identifiers: chr1:g.16380246T>A (hg19) ; chr1:g.16053751T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053751T>A , CM000663.2:g.16053751T>A	GRCh38
NC_000001.10:g.16380246T>A , CM000663.1:g.16380246T>A	GRCh37
NC_000001.9:g.16252833T>A	NCBI36
NG_013079.1:g.15000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1735T>A	ENSP00000507062.1:p.Tyr579Asn
ENST00000682793.1:c.1735T>A	ENSP00000506910.1:p.Tyr579Asn
ENST00000682838.1:c.*1477T>A	ENSP00000507652.1:n.*1477T>A
ENST00000683578.1:c.1735T>A	ENSP00000507430.1:p.Tyr579Asn
ENST00000683606.1:n.1341T>A
ENST00000683661.1:n.3270T>A
ENST00000684324.1:c.1735T>A	ENSP00000507937.1:p.Tyr579Asn
ENST00000684545.1:c.1735T>A	ENSP00000506733.1:p.Tyr579Asn
ENST00000684624.1:n.1112T>A
ENST00000684714.1:c.1707+28T>A	ENSP00000506861.1:n.1707+28T>A
ENST00000684731.1:n.1083+1340T>A
ENST00000375679.9:c.1735T>A MANE Select	ENSP00000364831.5:p.Tyr579Asn
ENST00000375667.7:c.1228T>A	ENSP00000364819.3:p.Tyr410Asn
ENST00000375679.8:c.1735T>A	ENSP00000364831.4:p.Tyr579Asn
ENST00000431772.1:c.202T>A	ENSP00000389344.1:p.Tyr68Asn
ENST00000619181.4:c.1293+61T>A	ENSP00000483866.1:n.1293+61T>A
NM_000085.4:c.1735T>A	NP_000076.2:p.Tyr579Asn
NM_001165945.2:c.1228T>A	NP_001159417.2:p.Tyr410Asn
XM_011540619.1:c.1576T>A	XP_011538921.1:p.Tyr526Asn
XM_011540621.1:c.1084T>A	XP_011538923.1:p.Tyr362Asn
NM_000085.5:c.1735T>A MANE Select	NP_000076.2:p.Tyr579Asn