Canonical Allele Identifier: CA351121572
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053277G>C , CM000664.2:g.223053277G>C GRCh38
NC_000002.11:g.223917995G>C , CM000664.1:g.223917995G>C GRCh37
NC_000002.10:g.223626239G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.447G>C MANE Select ENSP00000281830.5:p.Glu149Asp
ENST00000281830.3:c.600G>C ENSP00000281830.4:p.Glu200Asp
ENST00000488477.2:n.75+1003G>C
NM_080671.3:c.600G>C NP_542402.3:p.Glu200Asp
NM_080671.4:c.447G>C MANE Select NP_542402.4:p.Glu149Asp