Canonical Allele Identifier: CA623371

Gene: CLCNKB

Linked Data

• dbSNP Id: rs756965482
• ExAC: 1:16374945 A / G
• gnomAD v2: 1-16374945-A-G
• gnomAD v4: 1-16048450-A-G
• MyVariant Identifiers: chr1:g.16374945A>G (hg19) ; chr1:g.16048450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048450A>G , CM000663.2:g.16048450A>G	GRCh38
NC_000001.10:g.16374945A>G , CM000663.1:g.16374945A>G	GRCh37
NC_000001.9:g.16247532A>G	NCBI36
NG_013079.1:g.9699A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.576+30A>G	ENSP00000507062.1:n.576+30A>G
ENST00000682793.1:c.576+30A>G	ENSP00000506910.1:n.576+30A>G
ENST00000682838.1:c.*234+30A>G	ENSP00000507652.1:n.*234+30A>G
ENST00000683578.1:c.576+30A>G	ENSP00000507430.1:n.576+30A>G
ENST00000683661.1:n.2111+30A>G
ENST00000684324.1:c.576+30A>G	ENSP00000507937.1:n.576+30A>G
ENST00000684545.1:c.576+30A>G	ENSP00000506733.1:n.576+30A>G
ENST00000684714.1:c.576+30A>G	ENSP00000506861.1:n.576+30A>G
ENST00000684731.1:n.37+30A>G
ENST00000375679.9:c.576+30A>G MANE Select	ENSP00000364831.5:n.576+30A>G
ENST00000375679.8:c.576+30A>G	ENSP00000364831.4:n.576+30A>G
ENST00000619181.4:c.576+30A>G	ENSP00000483866.1:n.576+30A>G
NM_000085.4:c.576+30A>G	NP_000076.2:n.576+30A>G
XM_011540619.1:c.417+30A>G	XP_011538921.1:n.417+30A>G
XM_011540620.1:c.576+30A>G	XP_011538922.1:n.576+30A>G
NM_000085.5:c.576+30A>G MANE Select	NP_000076.2:n.576+30A>G