Canonical Allele Identifier: CA416240552
Gene: CLCNKB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16375040A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16048545A>T , CM000663.2:g.16048545A>T GRCh38
NC_000001.10:g.16375040A>T , CM000663.1:g.16375040A>T GRCh37
NC_000001.9:g.16247627A>T NCBI36
NG_013079.1:g.9794A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682338.1:c.618A>T ENSP00000507062.1:p.Ala206=
ENST00000682793.1:c.618A>T ENSP00000506910.1:p.Ala206=
ENST00000682838.1:c.*276A>T ENSP00000507652.1:n.*276A>T
ENST00000683578.1:c.618A>T ENSP00000507430.1:p.Ala206=
ENST00000683661.1:n.2153A>T
ENST00000684324.1:c.618A>T ENSP00000507937.1:p.Ala206=
ENST00000684545.1:c.618A>T ENSP00000506733.1:p.Ala206=
ENST00000684714.1:c.618A>T ENSP00000506861.1:p.Ala206=
ENST00000684731.1:n.79A>T
ENST00000375679.9:c.618A>T MANE Select ENSP00000364831.5:p.Ala206=
ENST00000375679.8:c.618A>T ENSP00000364831.4:p.Ala206=
ENST00000619181.4:c.587+31A>T ENSP00000483866.1:n.587+31A>T
NM_000085.4:c.618A>T NP_000076.2:p.Ala206=
XM_011540619.1:c.459A>T XP_011538921.1:p.Ala153=
XM_011540620.1:c.618A>T XP_011538922.1:p.Ala206=
NM_000085.5:c.618A>T MANE Select NP_000076.2:p.Ala206=