Canonical Allele Identifier: CA431595349
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917992G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053274G>A , CM000664.2:g.223053274G>A GRCh38
NC_000002.11:g.223917992G>A , CM000664.1:g.223917992G>A GRCh37
NC_000002.10:g.223626236G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.444G>A MANE Select ENSP00000281830.5:p.Glu148=
ENST00000281830.3:c.597G>A ENSP00000281830.4:p.Glu199=
ENST00000488477.2:n.75+1000G>A
NM_080671.3:c.597G>A NP_542402.3:p.Glu199=
NM_080671.4:c.444G>A MANE Select NP_542402.4:p.Glu148=