Canonical Allele Identifier: CA338644985

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055516-G-C
• MyVariant Identifiers: chr1:g.16382011G>C (hg19) ; chr1:g.16055516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055516G>C , CM000663.2:g.16055516G>C	GRCh38
NC_000001.10:g.16382011G>C , CM000663.1:g.16382011G>C	GRCh37
NC_000001.9:g.16254598G>C	NCBI36
NG_013079.1:g.16765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1838G>C	ENSP00000507062.1:p.Gly613Ala
ENST00000682793.1:c.1838G>C	ENSP00000506910.1:p.Gly613Ala
ENST00000682838.1:c.*1580G>C	ENSP00000507652.1:n.*1580G>C
ENST00000683578.1:c.1838G>C	ENSP00000507430.1:p.Gly613Ala
ENST00000683606.1:n.1444G>C
ENST00000683661.1:n.3373G>C
ENST00000684324.1:c.1838G>C	ENSP00000507937.1:p.Gly613Ala
ENST00000684545.1:c.1838G>C	ENSP00000506733.1:p.Gly613Ala
ENST00000684624.1:n.1215G>C
ENST00000684714.1:c.*58G>C	ENSP00000506861.1:n.*58G>C
ENST00000684731.1:n.1165G>C
ENST00000375679.9:c.1838G>C MANE Select	ENSP00000364831.5:p.Gly613Ala
ENST00000375667.7:c.1331G>C	ENSP00000364819.3:p.Gly444Ala
ENST00000375679.8:c.1838G>C	ENSP00000364831.4:p.Gly613Ala
ENST00000431772.1:c.305G>C	ENSP00000389344.1:p.Gly102Ala
ENST00000619181.4:c.1294-1671G>C	ENSP00000483866.1:n.1294-1671G>C
NM_000085.4:c.1838G>C	NP_000076.2:p.Gly613Ala
NM_001165945.2:c.1331G>C	NP_001159417.2:p.Gly444Ala
XM_011540619.1:c.1679G>C	XP_011538921.1:p.Gly560Ala
XM_011540621.1:c.1187G>C	XP_011538923.1:p.Gly396Ala
NM_000085.5:c.1838G>C MANE Select	NP_000076.2:p.Gly613Ala