Canonical Allele Identifier: CA381165679

Gene: KCNK4 KCNK4-CATSPERZ

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64297507C>A , CM000673.2:g.64297507C>A	GRCh38
NC_000011.9:g.64064979C>A , CM000673.1:g.64064979C>A	GRCh37
NC_000011.8:g.63821555C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033310.3:c.515C>A (KCNK4) MANE Select	NP_201567.1:p.Ala172Glu
ENST00000422670.7:c.515C>A (KCNK4) MANE Select	ENSP00000402797.2:p.Ala172Glu
NM_001317090.1:c.515C>A (KCNK4)	NP_001304019.1:p.Ala172Glu
NM_001317090.2:c.515C>A (KCNK4)	NP_001304019.1:p.Ala172Glu
NM_033310.2:c.515C>A (KCNK4)	NP_201567.1:p.Ala172Glu
NR_133660.1:n.551-108C>A (KCNK4)
NR_133660.2:n.551-108C>A (KCNK4)
NR_133661.1:n.606-108C>A (KCNK4)
NR_133661.2:n.615-108C>A (KCNK4)
NR_133662.1:n.656C>A (KCNK4-CATSPERZ)
ENST00000394525.6:c.515C>A (KCNK4)	ENSP00000378033.2:p.Ala172Glu
ENST00000422670.6:c.515C>A (KCNK4)	ENSP00000402797.2:p.Ala172Glu
ENST00000453423.5:n.590C>A (KCNK4)
ENST00000536690.1:n.646C>A (KCNK4)
ENST00000538767.1:c.276-108C>A (KCNK4)	ENSP00000446454.1:n.276-108C>A
ENST00000539216.1:c.515C>A (KCNK4)	ENSP00000444948.1:p.Ala172Glu
ENST00000539651.1:n.377-71C>A (KCNK4)
ENST00000541349.5:c.475-108C>A (KCNK4)	ENSP00000441460.1:n.475-108C>A
ENST00000696753.1:c.593C>A (KCNK4)	ENSP00000512851.1:p.Ala198Glu