Canonical Allele Identifier: CA338643905

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2275166
• gnomAD v4: 1-16053748-A-C
• MyVariant Identifiers: chr1:g.16380243A>C (hg19) ; chr1:g.16053748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053748A>C , CM000663.2:g.16053748A>C	GRCh38
NC_000001.10:g.16380243A>C , CM000663.1:g.16380243A>C	GRCh37
NC_000001.9:g.16252830A>C	NCBI36
NG_013079.1:g.14997A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1732A>C	ENSP00000507062.1:p.Lys578Gln
ENST00000682793.1:c.1732A>C	ENSP00000506910.1:p.Lys578Gln
ENST00000682838.1:c.*1474A>C	ENSP00000507652.1:n.*1474A>C
ENST00000683578.1:c.1732A>C	ENSP00000507430.1:p.Lys578Gln
ENST00000683606.1:n.1338A>C
ENST00000683661.1:n.3267A>C
ENST00000684324.1:c.1732A>C	ENSP00000507937.1:p.Lys578Gln
ENST00000684545.1:c.1732A>C	ENSP00000506733.1:p.Lys578Gln
ENST00000684624.1:n.1109A>C
ENST00000684714.1:c.1707+25A>C	ENSP00000506861.1:n.1707+25A>C
ENST00000684731.1:n.1083+1337A>C
ENST00000375679.9:c.1732A>C MANE Select	ENSP00000364831.5:p.Lys578Gln
ENST00000375667.7:c.1225A>C	ENSP00000364819.3:p.Lys409Gln
ENST00000375679.8:c.1732A>C	ENSP00000364831.4:p.Lys578Gln
ENST00000431772.1:c.199A>C	ENSP00000389344.1:p.Lys67Gln
ENST00000619181.4:c.1293+58A>C	ENSP00000483866.1:n.1293+58A>C
NM_000085.4:c.1732A>C	NP_000076.2:p.Lys578Gln
NM_001165945.2:c.1225A>C	NP_001159417.2:p.Lys409Gln
XM_011540619.1:c.1573A>C	XP_011538921.1:p.Lys525Gln
XM_011540621.1:c.1081A>C	XP_011538923.1:p.Lys361Gln
NM_000085.5:c.1732A>C MANE Select	NP_000076.2:p.Lys578Gln