Canonical Allele Identifier: CA338644990

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1355585237
• gnomAD v2: 1-16382014-A-C
• gnomAD v4: 1-16055519-A-C
• MyVariant Identifiers: chr1:g.16382014A>C (hg19) ; chr1:g.16055519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055519A>C , CM000663.2:g.16055519A>C	GRCh38
NC_000001.10:g.16382014A>C , CM000663.1:g.16382014A>C	GRCh37
NC_000001.9:g.16254601A>C	NCBI36
NG_013079.1:g.16768A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1841A>C	ENSP00000507062.1:p.His614Pro
ENST00000682793.1:c.1841A>C	ENSP00000506910.1:p.His614Pro
ENST00000682838.1:c.*1583A>C	ENSP00000507652.1:n.*1583A>C
ENST00000683578.1:c.1841A>C	ENSP00000507430.1:p.His614Pro
ENST00000683606.1:n.1447A>C
ENST00000683661.1:n.3376A>C
ENST00000684324.1:c.1841A>C	ENSP00000507937.1:p.His614Pro
ENST00000684545.1:c.1841A>C	ENSP00000506733.1:p.His614Pro
ENST00000684624.1:n.1218A>C
ENST00000684714.1:c.*61A>C	ENSP00000506861.1:n.*61A>C
ENST00000684731.1:n.1168A>C
ENST00000375679.9:c.1841A>C MANE Select	ENSP00000364831.5:p.His614Pro
ENST00000375667.7:c.1334A>C	ENSP00000364819.3:p.His445Pro
ENST00000375679.8:c.1841A>C	ENSP00000364831.4:p.His614Pro
ENST00000431772.1:c.308A>C	ENSP00000389344.1:p.His103Pro
ENST00000619181.4:c.1294-1668A>C	ENSP00000483866.1:n.1294-1668A>C
NM_000085.4:c.1841A>C	NP_000076.2:p.His614Pro
NM_001165945.2:c.1334A>C	NP_001159417.2:p.His445Pro
XM_011540619.1:c.1682A>C	XP_011538921.1:p.His561Pro
XM_011540621.1:c.1190A>C	XP_011538923.1:p.His397Pro
NM_000085.5:c.1841A>C MANE Select	NP_000076.2:p.His614Pro