Canonical Allele Identifier: CA351121557
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053270T>G , CM000664.2:g.223053270T>G GRCh38
NC_000002.11:g.223917988T>G , CM000664.1:g.223917988T>G GRCh37
NC_000002.10:g.223626232T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.440T>G MANE Select ENSP00000281830.5:p.Leu147Arg
ENST00000281830.3:c.593T>G ENSP00000281830.4:p.Leu198Arg
ENST00000488477.2:n.75+996T>G
NM_080671.3:c.593T>G NP_542402.3:p.Leu198Arg
NM_080671.4:c.440T>G MANE Select NP_542402.4:p.Leu147Arg