Canonical Allele Identifier: CA338635044

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2023171065
• gnomAD v3: 1-16048415-C-T
• gnomAD v4: 1-16048415-C-T
• MyVariant Identifiers: chr1:g.16374910C>T (hg19) ; chr1:g.16048415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048415C>T , CM000663.2:g.16048415C>T	GRCh38
NC_000001.10:g.16374910C>T , CM000663.1:g.16374910C>T	GRCh37
NC_000001.9:g.16247497C>T	NCBI36
NG_013079.1:g.9664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.571C>T	ENSP00000507062.1:p.Pro191Ser
ENST00000682793.1:c.571C>T	ENSP00000506910.1:p.Pro191Ser
ENST00000682838.1:c.*229C>T	ENSP00000507652.1:n.*229C>T
ENST00000683578.1:c.571C>T	ENSP00000507430.1:p.Pro191Ser
ENST00000683661.1:n.2106C>T
ENST00000684324.1:c.571C>T	ENSP00000507937.1:p.Pro191Ser
ENST00000684545.1:c.571C>T	ENSP00000506733.1:p.Pro191Ser
ENST00000684714.1:c.571C>T	ENSP00000506861.1:p.Pro191Ser
ENST00000684731.1:n.32C>T
ENST00000375679.9:c.571C>T MANE Select	ENSP00000364831.5:p.Pro191Ser
ENST00000375679.8:c.571C>T	ENSP00000364831.4:p.Pro191Ser
ENST00000619181.4:c.571C>T	ENSP00000483866.1:p.Pro191Ser
NM_000085.4:c.571C>T	NP_000076.2:p.Pro191Ser
XM_011540619.1:c.412C>T	XP_011538921.1:p.Pro138Ser
XM_011540620.1:c.571C>T	XP_011538922.1:p.Pro191Ser
NM_000085.5:c.571C>T MANE Select	NP_000076.2:p.Pro191Ser