Canonical Allele Identifier: CA351121325
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053165C>A , CM000664.2:g.223053165C>A GRCh38
NC_000002.11:g.223917883C>A , CM000664.1:g.223917883C>A GRCh37
NC_000002.10:g.223626127C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.335C>A MANE Select ENSP00000281830.5:p.Ala112Glu
ENST00000281830.3:c.488C>A ENSP00000281830.4:p.Ala163Glu
ENST00000488477.2:n.75+891C>A
NM_080671.3:c.488C>A NP_542402.3:p.Ala163Glu
NM_080671.4:c.335C>A MANE Select NP_542402.4:p.Ala112Glu