Canonical Allele Identifier: CA416256654

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1202547525
• gnomAD v4: 1-16055502-T-G
• MyVariant Identifiers: chr1:g.16381997T>G (hg19) ; chr1:g.16055502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055502T>G , CM000663.2:g.16055502T>G	GRCh38
NC_000001.10:g.16381997T>G , CM000663.1:g.16381997T>G	GRCh37
NC_000001.9:g.16254584T>G	NCBI36
NG_013079.1:g.16751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1824T>G	ENSP00000507062.1:p.Pro608=
ENST00000682793.1:c.1824T>G	ENSP00000506910.1:p.Pro608=
ENST00000682838.1:c.*1566T>G	ENSP00000507652.1:n.*1566T>G
ENST00000683578.1:c.1824T>G	ENSP00000507430.1:p.Pro608=
ENST00000683606.1:n.1430T>G
ENST00000683661.1:n.3359T>G
ENST00000684324.1:c.1824T>G	ENSP00000507937.1:p.Pro608=
ENST00000684545.1:c.1824T>G	ENSP00000506733.1:p.Pro608=
ENST00000684624.1:n.1201T>G
ENST00000684714.1:c.*44T>G	ENSP00000506861.1:n.*44T>G
ENST00000684731.1:n.1151T>G
ENST00000375679.9:c.1824T>G MANE Select	ENSP00000364831.5:p.Pro608=
ENST00000375667.7:c.1317T>G	ENSP00000364819.3:p.Pro439=
ENST00000375679.8:c.1824T>G	ENSP00000364831.4:p.Pro608=
ENST00000431772.1:c.291T>G	ENSP00000389344.1:p.Pro97=
ENST00000619181.4:c.1294-1685T>G	ENSP00000483866.1:n.1294-1685T>G
NM_000085.4:c.1824T>G	NP_000076.2:p.Pro608=
NM_001165945.2:c.1317T>G	NP_001159417.2:p.Pro439=
XM_011540619.1:c.1665T>G	XP_011538921.1:p.Pro555=
XM_011540621.1:c.1173T>G	XP_011538923.1:p.Pro391=
NM_000085.5:c.1824T>G MANE Select	NP_000076.2:p.Pro608=