Canonical Allele Identifier: CA416255480

Gene: CLCNKB

Linked Data

• MyVariant Identifiers: chr1:g.16380251C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053756C>T , CM000663.2:g.16053756C>T	GRCh38
NC_000001.10:g.16380251C>T , CM000663.1:g.16380251C>T	GRCh37
NC_000001.9:g.16252838C>T	NCBI36
NG_013079.1:g.15005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1740C>T	ENSP00000507062.1:p.Pro580=
ENST00000682793.1:c.1740C>T	ENSP00000506910.1:p.Pro580=
ENST00000682838.1:c.*1482C>T	ENSP00000507652.1:n.*1482C>T
ENST00000683578.1:c.1740C>T	ENSP00000507430.1:p.Pro580=
ENST00000683606.1:n.1346C>T
ENST00000683661.1:n.3275C>T
ENST00000684324.1:c.1740C>T	ENSP00000507937.1:p.Pro580=
ENST00000684545.1:c.1740C>T	ENSP00000506733.1:p.Pro580=
ENST00000684624.1:n.1117C>T
ENST00000684714.1:c.1707+33C>T	ENSP00000506861.1:n.1707+33C>T
ENST00000684731.1:n.1083+1345C>T
ENST00000375679.9:c.1740C>T MANE Select	ENSP00000364831.5:p.Pro580=
ENST00000375667.7:c.1233C>T	ENSP00000364819.3:p.Pro411=
ENST00000375679.8:c.1740C>T	ENSP00000364831.4:p.Pro580=
ENST00000431772.1:c.207C>T	ENSP00000389344.1:p.Pro69=
ENST00000619181.4:c.1293+66C>T	ENSP00000483866.1:n.1293+66C>T
NM_000085.4:c.1740C>T	NP_000076.2:p.Pro580=
NM_001165945.2:c.1233C>T	NP_001159417.2:p.Pro411=
XM_011540619.1:c.1581C>T	XP_011538921.1:p.Pro527=
XM_011540621.1:c.1089C>T	XP_011538923.1:p.Pro363=
NM_000085.5:c.1740C>T MANE Select	NP_000076.2:p.Pro580=