Canonical Allele Identifier: CA338641088

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2023291012
• MyVariant Identifiers: chr1:g.16378009C>T (hg19) ; chr1:g.16051514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051514C>T , CM000663.2:g.16051514C>T	GRCh38
NC_000001.10:g.16378009C>T , CM000663.1:g.16378009C>T	GRCh37
NC_000001.9:g.16250596C>T	NCBI36
NG_013079.1:g.12763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1264C>T	ENSP00000507062.1:p.Pro422Ser
ENST00000682793.1:c.1264C>T	ENSP00000506910.1:p.Pro422Ser
ENST00000682838.1:c.*1006C>T	ENSP00000507652.1:n.*1006C>T
ENST00000683578.1:c.1264C>T	ENSP00000507430.1:p.Pro422Ser
ENST00000683606.1:n.879C>T
ENST00000683661.1:n.2799C>T
ENST00000684324.1:c.1264C>T	ENSP00000507937.1:p.Pro422Ser
ENST00000684545.1:c.1264C>T	ENSP00000506733.1:p.Pro422Ser
ENST00000684624.1:n.641C>T
ENST00000684714.1:c.1264C>T	ENSP00000506861.1:p.Pro422Ser
ENST00000684731.1:n.725C>T
ENST00000375679.9:c.1264C>T MANE Select	ENSP00000364831.5:p.Pro422Ser
ENST00000375667.7:c.757C>T	ENSP00000364819.3:p.Pro253Ser
ENST00000375679.8:c.1264C>T	ENSP00000364831.4:p.Pro422Ser
ENST00000619181.4:c.883C>T	ENSP00000483866.1:p.Pro295Ser
NM_000085.4:c.1264C>T	NP_000076.2:p.Pro422Ser
NM_001165945.2:c.757C>T	NP_001159417.2:p.Pro253Ser
XM_011540619.1:c.1105C>T	XP_011538921.1:p.Pro369Ser
XM_011540620.1:c.1264C>T	XP_011538922.1:p.Pro422Ser
XM_011540621.1:c.613C>T	XP_011538923.1:p.Pro205Ser
NM_000085.5:c.1264C>T MANE Select	NP_000076.2:p.Pro422Ser