Canonical Allele Identifier: CA18340399

Gene: CLCNKB

Linked Data

• dbSNP Id: rs375808689
• gnomAD v4: 1-16055456-T-C
• MyVariant Identifiers: chr1:g.16381951T>C (hg19) ; chr1:g.16055456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055456T>C , CM000663.2:g.16055456T>C	GRCh38
NC_000001.10:g.16381951T>C , CM000663.1:g.16381951T>C	GRCh37
NC_000001.9:g.16254538T>C	NCBI36
NG_013079.1:g.16705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1778T>C	ENSP00000507062.1:p.Ile593Thr
ENST00000682793.1:c.1778T>C	ENSP00000506910.1:p.Ile593Thr
ENST00000682838.1:c.*1520T>C	ENSP00000507652.1:n.*1520T>C
ENST00000683578.1:c.1778T>C	ENSP00000507430.1:p.Ile593Thr
ENST00000683606.1:n.1384T>C
ENST00000683661.1:n.3313T>C
ENST00000684324.1:c.1778T>C	ENSP00000507937.1:p.Ile593Thr
ENST00000684545.1:c.1778T>C	ENSP00000506733.1:p.Ile593Thr
ENST00000684624.1:n.1155T>C
ENST00000684714.1:c.1729T>C	ENSP00000506861.1:p.Ter577Gln
ENST00000684731.1:n.1105T>C
ENST00000375679.9:c.1778T>C MANE Select	ENSP00000364831.5:p.Ile593Thr
ENST00000375667.7:c.1271T>C	ENSP00000364819.3:p.Ile424Thr
ENST00000375679.8:c.1778T>C	ENSP00000364831.4:p.Ile593Thr
ENST00000431772.1:c.245T>C	ENSP00000389344.1:p.Ile82Thr
ENST00000619181.4:c.1294-1731T>C	ENSP00000483866.1:n.1294-1731T>C
NM_000085.4:c.1778T>C	NP_000076.2:p.Ile593Thr
NM_001165945.2:c.1271T>C	NP_001159417.2:p.Ile424Thr
XM_011540619.1:c.1619T>C	XP_011538921.1:p.Ile540Thr
XM_011540621.1:c.1127T>C	XP_011538923.1:p.Ile376Thr
NM_000085.5:c.1778T>C MANE Select	NP_000076.2:p.Ile593Thr