Canonical Allele Identifier: CA338644894

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1349579674
• gnomAD v2: 1-16381996-C-A
• MyVariant Identifiers: chr1:g.16381996C>A (hg19) ; chr1:g.16055501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055501C>A , CM000663.2:g.16055501C>A	GRCh38
NC_000001.10:g.16381996C>A , CM000663.1:g.16381996C>A	GRCh37
NC_000001.9:g.16254583C>A	NCBI36
NG_013079.1:g.16750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1823C>A	ENSP00000507062.1:p.Pro608His
ENST00000682793.1:c.1823C>A	ENSP00000506910.1:p.Pro608His
ENST00000682838.1:c.*1565C>A	ENSP00000507652.1:n.*1565C>A
ENST00000683578.1:c.1823C>A	ENSP00000507430.1:p.Pro608His
ENST00000683606.1:n.1429C>A
ENST00000683661.1:n.3358C>A
ENST00000684324.1:c.1823C>A	ENSP00000507937.1:p.Pro608His
ENST00000684545.1:c.1823C>A	ENSP00000506733.1:p.Pro608His
ENST00000684624.1:n.1200C>A
ENST00000684714.1:c.*43C>A	ENSP00000506861.1:n.*43C>A
ENST00000684731.1:n.1150C>A
ENST00000375679.9:c.1823C>A MANE Select	ENSP00000364831.5:p.Pro608His
ENST00000375667.7:c.1316C>A	ENSP00000364819.3:p.Pro439His
ENST00000375679.8:c.1823C>A	ENSP00000364831.4:p.Pro608His
ENST00000431772.1:c.290C>A	ENSP00000389344.1:p.Pro97His
ENST00000619181.4:c.1294-1686C>A	ENSP00000483866.1:n.1294-1686C>A
NM_000085.4:c.1823C>A	NP_000076.2:p.Pro608His
NM_001165945.2:c.1316C>A	NP_001159417.2:p.Pro439His
XM_011540619.1:c.1664C>A	XP_011538921.1:p.Pro555His
XM_011540621.1:c.1172C>A	XP_011538923.1:p.Pro391His
NM_000085.5:c.1823C>A MANE Select	NP_000076.2:p.Pro608His