Canonical Allele Identifier: CA351121567
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053275G>T , CM000664.2:g.223053275G>T GRCh38
NC_000002.11:g.223917993G>T , CM000664.1:g.223917993G>T GRCh37
NC_000002.10:g.223626237G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.445G>T MANE Select ENSP00000281830.5:p.Glu149Ter
ENST00000281830.3:c.598G>T ENSP00000281830.4:p.Glu200Ter
ENST00000488477.2:n.75+1001G>T
NM_080671.3:c.598G>T NP_542402.3:p.Glu200Ter
NM_080671.4:c.445G>T MANE Select NP_542402.4:p.Glu149Ter