Canonical Allele Identifier: CA338644776

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1158524084
• gnomAD v2: 1-16381977-G-A
• gnomAD v4: 1-16055482-G-A
• MyVariant Identifiers: chr1:g.16381977G>A (hg19) ; chr1:g.16055482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055482G>A , CM000663.2:g.16055482G>A	GRCh38
NC_000001.10:g.16381977G>A , CM000663.1:g.16381977G>A	GRCh37
NC_000001.9:g.16254564G>A	NCBI36
NG_013079.1:g.16731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1804G>A	ENSP00000507062.1:p.Ala602Thr
ENST00000682793.1:c.1804G>A	ENSP00000506910.1:p.Ala602Thr
ENST00000682838.1:c.*1546G>A	ENSP00000507652.1:n.*1546G>A
ENST00000683578.1:c.1804G>A	ENSP00000507430.1:p.Ala602Thr
ENST00000683606.1:n.1410G>A
ENST00000683661.1:n.3339G>A
ENST00000684324.1:c.1804G>A	ENSP00000507937.1:p.Ala602Thr
ENST00000684545.1:c.1804G>A	ENSP00000506733.1:p.Ala602Thr
ENST00000684624.1:n.1181G>A
ENST00000684714.1:c.*24G>A	ENSP00000506861.1:n.*24G>A
ENST00000684731.1:n.1131G>A
ENST00000375679.9:c.1804G>A MANE Select	ENSP00000364831.5:p.Ala602Thr
ENST00000375667.7:c.1297G>A	ENSP00000364819.3:p.Ala433Thr
ENST00000375679.8:c.1804G>A	ENSP00000364831.4:p.Ala602Thr
ENST00000431772.1:c.271G>A	ENSP00000389344.1:p.Ala91Thr
ENST00000619181.4:c.1294-1705G>A	ENSP00000483866.1:n.1294-1705G>A
NM_000085.4:c.1804G>A	NP_000076.2:p.Ala602Thr
NM_001165945.2:c.1297G>A	NP_001159417.2:p.Ala433Thr
XM_011540619.1:c.1645G>A	XP_011538921.1:p.Ala549Thr
XM_011540621.1:c.1153G>A	XP_011538923.1:p.Ala385Thr
NM_000085.5:c.1804G>A MANE Select	NP_000076.2:p.Ala602Thr