Canonical Allele Identifier: CA338635347

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16375041G>C (hg19) ; chr1:g.16048546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048546G>C , CM000663.2:g.16048546G>C	GRCh38
NC_000001.10:g.16375041G>C , CM000663.1:g.16375041G>C	GRCh37
NC_000001.9:g.16247628G>C	NCBI36
NG_013079.1:g.9795G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.619G>C	ENSP00000507062.1:p.Val207Leu
ENST00000682793.1:c.619G>C	ENSP00000506910.1:p.Val207Leu
ENST00000682838.1:c.*277G>C	ENSP00000507652.1:n.*277G>C
ENST00000683578.1:c.619G>C	ENSP00000507430.1:p.Val207Leu
ENST00000683661.1:n.2154G>C
ENST00000684324.1:c.619G>C	ENSP00000507937.1:p.Val207Leu
ENST00000684545.1:c.619G>C	ENSP00000506733.1:p.Val207Leu
ENST00000684714.1:c.619G>C	ENSP00000506861.1:p.Val207Leu
ENST00000684731.1:n.80G>C
ENST00000375679.9:c.619G>C MANE Select	ENSP00000364831.5:p.Val207Leu
ENST00000375679.8:c.619G>C	ENSP00000364831.4:p.Val207Leu
ENST00000619181.4:c.587+32G>C	ENSP00000483866.1:n.587+32G>C
NM_000085.4:c.619G>C	NP_000076.2:p.Val207Leu
XM_011540619.1:c.460G>C	XP_011538921.1:p.Val154Leu
XM_011540620.1:c.619G>C	XP_011538922.1:p.Val207Leu
NM_000085.5:c.619G>C MANE Select	NP_000076.2:p.Val207Leu