Canonical Allele Identifier: CA623400

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 504916
• ClinVar RCV Id: RCV000606374 ; RCV000986251
• dbSNP Id: rs1889789
• ExAC: 1:16375063 C / G
• gnomAD v2: 1-16375063-C-G
• gnomAD v3: 1-16048568-C-G
• gnomAD v4: 1-16048568-C-G
• MyVariant Identifiers: chr1:g.16375063C>G (hg19) ; chr1:g.16375063_16375064delinsGA (hg19) ; chr1:g.16048568C>G (hg38) ; chr1:g.16048568_16048569delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048568C>G , CM000663.2:g.16048568C>G	GRCh38
NC_000001.10:g.16375063C>G , CM000663.1:g.16375063C>G	GRCh37
NC_000001.9:g.16247650C>G	NCBI36
NG_013079.1:g.9817C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.641C>G	ENSP00000507062.1:p.Ala214Gly
ENST00000682793.1:c.641C>G	ENSP00000506910.1:p.Ala214Gly
ENST00000682838.1:c.*299C>G	ENSP00000507652.1:n.*299C>G
ENST00000683578.1:c.641C>G	ENSP00000507430.1:p.Ala214Gly
ENST00000683661.1:n.2176C>G
ENST00000684324.1:c.641C>G	ENSP00000507937.1:p.Ala214Gly
ENST00000684545.1:c.641C>G	ENSP00000506733.1:p.Ala214Gly
ENST00000684714.1:c.641C>G	ENSP00000506861.1:p.Ala214Gly
ENST00000684731.1:n.102C>G
ENST00000375679.9:c.641C>G MANE Select	ENSP00000364831.5:p.Ala214Gly
ENST00000375679.8:c.641C>G	ENSP00000364831.4:p.Ala214Gly
ENST00000619181.4:c.587+54C>G	ENSP00000483866.1:n.587+54C>G
NM_000085.4:c.641C>G	NP_000076.2:p.Ala214Gly
XM_011540619.1:c.482C>G	XP_011538921.1:p.Ala161Gly
XM_011540620.1:c.641C>G	XP_011538922.1:p.Ala214Gly
NM_000085.5:c.641C>G MANE Select	NP_000076.2:p.Ala214Gly