Canonical Allele Identifier: CA338635184

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16375015A>G (hg19) ; chr1:g.16048520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048520A>G , CM000663.2:g.16048520A>G	GRCh38
NC_000001.10:g.16375015A>G , CM000663.1:g.16375015A>G	GRCh37
NC_000001.9:g.16247602A>G	NCBI36
NG_013079.1:g.9769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.593A>G	ENSP00000507062.1:p.Asn198Ser
ENST00000682793.1:c.593A>G	ENSP00000506910.1:p.Asn198Ser
ENST00000682838.1:c.*251A>G	ENSP00000507652.1:n.*251A>G
ENST00000683578.1:c.593A>G	ENSP00000507430.1:p.Asn198Ser
ENST00000683661.1:n.2128A>G
ENST00000684324.1:c.593A>G	ENSP00000507937.1:p.Asn198Ser
ENST00000684545.1:c.593A>G	ENSP00000506733.1:p.Asn198Ser
ENST00000684714.1:c.593A>G	ENSP00000506861.1:p.Asn198Ser
ENST00000684731.1:n.54A>G
ENST00000375679.9:c.593A>G MANE Select	ENSP00000364831.5:p.Asn198Ser
ENST00000375679.8:c.593A>G	ENSP00000364831.4:p.Asn198Ser
ENST00000619181.4:c.587+6A>G	ENSP00000483866.1:n.587+6A>G
NM_000085.4:c.593A>G	NP_000076.2:p.Asn198Ser
XM_011540619.1:c.434A>G	XP_011538921.1:p.Asn145Ser
XM_011540620.1:c.593A>G	XP_011538922.1:p.Asn198Ser
NM_000085.5:c.593A>G MANE Select	NP_000076.2:p.Asn198Ser