Canonical Allele Identifier: CA338635148

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16375009A>C (hg19) ; chr1:g.16048514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048514A>C , CM000663.2:g.16048514A>C	GRCh38
NC_000001.10:g.16375009A>C , CM000663.1:g.16375009A>C	GRCh37
NC_000001.9:g.16247596A>C	NCBI36
NG_013079.1:g.9763A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.587A>C	ENSP00000507062.1:p.Lys196Thr
ENST00000682793.1:c.587A>C	ENSP00000506910.1:p.Lys196Thr
ENST00000682838.1:c.*245A>C	ENSP00000507652.1:n.*245A>C
ENST00000683578.1:c.587A>C	ENSP00000507430.1:p.Lys196Thr
ENST00000683661.1:n.2122A>C
ENST00000684324.1:c.587A>C	ENSP00000507937.1:p.Lys196Thr
ENST00000684545.1:c.587A>C	ENSP00000506733.1:p.Lys196Thr
ENST00000684714.1:c.587A>C	ENSP00000506861.1:p.Lys196Thr
ENST00000684731.1:n.48A>C
ENST00000375679.9:c.587A>C MANE Select	ENSP00000364831.5:p.Lys196Thr
ENST00000375679.8:c.587A>C	ENSP00000364831.4:p.Lys196Thr
ENST00000619181.4:c.587A>C	ENSP00000483866.1:p.Asn196Thr
NM_000085.4:c.587A>C	NP_000076.2:p.Lys196Thr
XM_011540619.1:c.428A>C	XP_011538921.1:p.Lys143Thr
XM_011540620.1:c.587A>C	XP_011538922.1:p.Lys196Thr
NM_000085.5:c.587A>C MANE Select	NP_000076.2:p.Lys196Thr