Canonical Allele Identifier: CA18332725

Gene: CLCNKB

Linked Data

• dbSNP Id: rs553616251
• gnomAD v2: 1-16375142-T-C
• gnomAD v3: 1-16048647-T-C
• gnomAD v4: 1-16048647-T-C
• MyVariant Identifiers: chr1:g.16375142T>C (hg19) ; chr1:g.16048647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048647T>C , CM000663.2:g.16048647T>C	GRCh38
NC_000001.10:g.16375142T>C , CM000663.1:g.16375142T>C	GRCh37
NC_000001.9:g.16247729T>C	NCBI36
NG_013079.1:g.9896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.655+65T>C	ENSP00000507062.1:n.655+65T>C
ENST00000682793.1:c.655+65T>C	ENSP00000506910.1:n.655+65T>C
ENST00000682838.1:c.*313+65T>C	ENSP00000507652.1:n.*313+65T>C
ENST00000683578.1:c.655+65T>C	ENSP00000507430.1:n.655+65T>C
ENST00000683661.1:n.2190+65T>C
ENST00000684324.1:c.655+65T>C	ENSP00000507937.1:n.655+65T>C
ENST00000684545.1:c.655+65T>C	ENSP00000506733.1:n.655+65T>C
ENST00000684714.1:c.655+65T>C	ENSP00000506861.1:n.655+65T>C
ENST00000684731.1:n.116+65T>C
ENST00000375679.9:c.655+65T>C MANE Select	ENSP00000364831.5:n.655+65T>C
ENST00000375679.8:c.655+65T>C	ENSP00000364831.4:n.655+65T>C
ENST00000619181.4:c.587+133T>C	ENSP00000483866.1:n.587+133T>C
NM_000085.4:c.655+65T>C	NP_000076.2:n.655+65T>C
XM_011540619.1:c.496+65T>C	XP_011538921.1:n.496+65T>C
XM_011540620.1:c.655+65T>C	XP_011538922.1:n.655+65T>C
NM_000085.5:c.655+65T>C MANE Select	NP_000076.2:n.655+65T>C