Canonical Allele Identifier: CA338635101

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1239517794
• gnomAD v2: 1-16375001-C-A
• gnomAD v3: 1-16048506-C-A
• gnomAD v4: 1-16048506-C-A
• MyVariant Identifiers: chr1:g.16375001C>A (hg19) ; chr1:g.16048506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048506C>A , CM000663.2:g.16048506C>A	GRCh38
NC_000001.10:g.16375001C>A , CM000663.1:g.16375001C>A	GRCh37
NC_000001.9:g.16247588C>A	NCBI36
NG_013079.1:g.9755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.579C>A	ENSP00000507062.1:p.Asn193Lys
ENST00000682793.1:c.579C>A	ENSP00000506910.1:p.Asn193Lys
ENST00000682838.1:c.*237C>A	ENSP00000507652.1:n.*237C>A
ENST00000683578.1:c.579C>A	ENSP00000507430.1:p.Asn193Lys
ENST00000683661.1:n.2114C>A
ENST00000684324.1:c.579C>A	ENSP00000507937.1:p.Asn193Lys
ENST00000684545.1:c.579C>A	ENSP00000506733.1:p.Asn193Lys
ENST00000684714.1:c.579C>A	ENSP00000506861.1:p.Asn193Lys
ENST00000684731.1:n.40C>A
ENST00000375679.9:c.579C>A MANE Select	ENSP00000364831.5:p.Asn193Lys
ENST00000375679.8:c.579C>A	ENSP00000364831.4:p.Asn193Lys
ENST00000619181.4:c.579C>A	ENSP00000483866.1:p.Asn193Lys
NM_000085.4:c.579C>A	NP_000076.2:p.Asn193Lys
XM_011540619.1:c.420C>A	XP_011538921.1:p.Asn140Lys
XM_011540620.1:c.579C>A	XP_011538922.1:p.Asn193Lys
NM_000085.5:c.579C>A MANE Select	NP_000076.2:p.Asn193Lys