Canonical Allele Identifier: CA6073198
Gene: KCNK4 HGNC NCBI
KCNK4-CATSPERZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64299387G>A , CM000673.2:g.64299387G>A GRCh38
NC_000011.9:g.64066859G>A , CM000673.1:g.64066859G>A GRCh37
NC_000011.8:g.63823435G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696753.1:c.921G>A (KCNK4) ENSP00000512851.1:p.Thr307=
ENST00000422670.7:c.843G>A (KCNK4) MANE Select ENSP00000402797.2:p.Thr281=
ENST00000394525.6:c.843G>A (KCNK4) ENSP00000378033.2:p.Thr281=
ENST00000422670.6:c.843G>A (KCNK4) ENSP00000402797.2:p.Thr281=
ENST00000453423.5:n.918G>A (KCNK4)
ENST00000536690.1:n.974G>A (KCNK4)
ENST00000538767.1:c.496G>A (KCNK4) ENSP00000446454.1:p.Gly166Ser
ENST00000539216.1:c.843G>A (KCNK4) ENSP00000444948.1:p.Thr281=
ENST00000541349.5:c.*218G>A (KCNK4) ENSP00000441460.1:n.*218G>A
NM_033310.2:c.843G>A (KCNK4) NP_201567.1:p.Thr281=
NM_001317090.1:c.843G>A (KCNK4) NP_001304019.1:p.Thr281=
NR_133660.1:n.771G>A (KCNK4)
NR_133661.1:n.826G>A (KCNK4)
NR_133662.1:n.984G>A (KCNK4-CATSPERZ)
NM_033310.3:c.843G>A (KCNK4) MANE Select NP_201567.1:p.Thr281=
NM_001317090.2:c.843G>A (KCNK4) NP_001304019.1:p.Thr281=
NR_133660.2:n.771G>A (KCNK4)
NR_133661.2:n.835G>A (KCNK4)