Canonical Allele Identifier: CA521460427

Gene: CLCNKB

Linked Data

• dbSNP Id: rs370053962
• gnomAD v2: 1-16382131-G-T
• gnomAD v4: 1-16055636-G-T
• MyVariant Identifiers: chr1:g.16382131G>T (hg19) ; chr1:g.16055636G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055636G>T , CM000663.2:g.16055636G>T	GRCh38
NC_000001.10:g.16382131G>T , CM000663.1:g.16382131G>T	GRCh37
NC_000001.9:g.16254718G>T	NCBI36
NG_013079.1:g.16885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1846-39G>T	ENSP00000507062.1:n.1846-39G>T
ENST00000682793.1:c.1846-39G>T	ENSP00000506910.1:n.1846-39G>T
ENST00000682838.1:c.*1588-42G>T	ENSP00000507652.1:n.*1588-42G>T
ENST00000683578.1:c.1846-42G>T	ENSP00000507430.1:n.1846-42G>T
ENST00000683606.1:n.1452-42G>T
ENST00000683661.1:n.3381-39G>T
ENST00000684324.1:c.1846-39G>T	ENSP00000507937.1:n.1846-39G>T
ENST00000684545.1:c.1846-39G>T	ENSP00000506733.1:n.1846-39G>T
ENST00000684624.1:n.1223-39G>T
ENST00000684714.1:c.*66-39G>T	ENSP00000506861.1:n.*66-39G>T
ENST00000684731.1:n.1173-39G>T
ENST00000375679.9:c.1846-39G>T MANE Select	ENSP00000364831.5:n.1846-39G>T
ENST00000375667.7:c.1339-42G>T	ENSP00000364819.3:n.1339-42G>T
ENST00000375679.8:c.1846-39G>T	ENSP00000364831.4:n.1846-39G>T
ENST00000431772.1:c.313-42G>T	ENSP00000389344.1:n.313-42G>T
ENST00000619181.4:c.1294-1551G>T	ENSP00000483866.1:n.1294-1551G>T
NM_000085.4:c.1846-39G>T	NP_000076.2:n.1846-39G>T
NM_001165945.2:c.1339-42G>T	NP_001159417.2:n.1339-42G>T
XM_011540619.1:c.1687-39G>T	XP_011538921.1:n.1687-39G>T
XM_011540621.1:c.1195-39G>T	XP_011538923.1:n.1195-39G>T
NM_000085.5:c.1846-39G>T MANE Select	NP_000076.2:n.1846-39G>T