Canonical Allele Identifier: CA1155655325

Gene: CLCNKB

Linked Data

• dbSNP Id: rs2023171833
• gnomAD v4: 1-16048451-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048451T>C , CM000663.2:g.16048451T>C	GRCh38
NC_000001.10:g.16374946T>C , CM000663.1:g.16374946T>C	GRCh37
NC_000001.9:g.16247533T>C	NCBI36
NG_013079.1:g.9700T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.576+31T>C	ENSP00000507062.1:n.576+31T>C
ENST00000682793.1:c.576+31T>C	ENSP00000506910.1:n.576+31T>C
ENST00000682838.1:c.*234+31T>C	ENSP00000507652.1:n.*234+31T>C
ENST00000683578.1:c.576+31T>C	ENSP00000507430.1:n.576+31T>C
ENST00000683661.1:n.2111+31T>C
ENST00000684324.1:c.576+31T>C	ENSP00000507937.1:n.576+31T>C
ENST00000684545.1:c.576+31T>C	ENSP00000506733.1:n.576+31T>C
ENST00000684714.1:c.576+31T>C	ENSP00000506861.1:n.576+31T>C
ENST00000684731.1:n.37+31T>C
ENST00000375679.9:c.576+31T>C MANE Select	ENSP00000364831.5:n.576+31T>C
ENST00000375679.8:c.576+31T>C	ENSP00000364831.4:n.576+31T>C
ENST00000619181.4:c.576+31T>C	ENSP00000483866.1:n.576+31T>C
NM_000085.4:c.576+31T>C	NP_000076.2:n.576+31T>C
XM_011540619.1:c.417+31T>C	XP_011538921.1:n.417+31T>C
XM_011540620.1:c.576+31T>C	XP_011538922.1:n.576+31T>C
NM_000085.5:c.576+31T>C MANE Select	NP_000076.2:n.576+31T>C