Canonical Allele Identifier: CA18335921

Gene: CLCNKB

Linked Data

• dbSNP Id: rs945237221
• gnomAD v3: 1-16051619-T-G
• gnomAD v4: 1-16051619-T-G
• MyVariant Identifiers: chr1:g.16378114T>G (hg19) ; chr1:g.16051619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051619T>G , CM000663.2:g.16051619T>G	GRCh38
NC_000001.10:g.16378114T>G , CM000663.1:g.16378114T>G	GRCh37
NC_000001.9:g.16250701T>G	NCBI36
NG_013079.1:g.12868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1297+72T>G	ENSP00000507062.1:n.1297+72T>G
ENST00000682793.1:c.1297+72T>G	ENSP00000506910.1:n.1297+72T>G
ENST00000682838.1:c.*1039+72T>G	ENSP00000507652.1:n.*1039+72T>G
ENST00000683578.1:c.1297+72T>G	ENSP00000507430.1:n.1297+72T>G
ENST00000683606.1:n.912+72T>G
ENST00000683661.1:n.2832+72T>G
ENST00000684324.1:c.1297+72T>G	ENSP00000507937.1:n.1297+72T>G
ENST00000684545.1:c.1297+72T>G	ENSP00000506733.1:n.1297+72T>G
ENST00000684624.1:n.674+72T>G
ENST00000684714.1:c.1297+72T>G	ENSP00000506861.1:n.1297+72T>G
ENST00000684731.1:n.758+72T>G
ENST00000375679.9:c.1297+72T>G MANE Select	ENSP00000364831.5:n.1297+72T>G
ENST00000375667.7:c.790+72T>G	ENSP00000364819.3:n.790+72T>G
ENST00000375679.8:c.1297+72T>G	ENSP00000364831.4:n.1297+72T>G
ENST00000619181.4:c.916+72T>G	ENSP00000483866.1:n.916+72T>G
NM_000085.4:c.1297+72T>G	NP_000076.2:n.1297+72T>G
NM_001165945.2:c.790+72T>G	NP_001159417.2:n.790+72T>G
XM_011540619.1:c.1138+72T>G	XP_011538921.1:n.1138+72T>G
XM_011540620.1:c.1297+72T>G	XP_011538922.1:n.1297+72T>G
XM_011540621.1:c.646+72T>G	XP_011538923.1:n.646+72T>G
NM_000085.5:c.1297+72T>G MANE Select	NP_000076.2:n.1297+72T>G