Canonical Allele Identifier: CA351121563
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.444G>C MANE Select ENSP00000281830.5:p.Glu148Asp
ENST00000281830.3:c.597G>C ENSP00000281830.4:p.Glu199Asp
ENST00000488477.2:n.75+1000G>C
NM_080671.3:c.597G>C NP_542402.3:p.Glu199Asp
NM_080671.4:c.444G>C MANE Select NP_542402.4:p.Glu148Asp