Canonical Allele Identifier: CA431595350
Gene: KCNE4 HGNC NCBI

Linked Data

gnomAD v4: 2-223053277-G-A
COSMIC: COSM4553768
MyVariant Identifiers: chr2:g.223917995G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.447G>A MANE Select ENSP00000281830.5:p.Glu149=
ENST00000281830.3:c.600G>A ENSP00000281830.4:p.Glu200=
ENST00000488477.2:n.75+1003G>A
NM_080671.3:c.600G>A NP_542402.3:p.Glu200=
NM_080671.4:c.447G>A MANE Select NP_542402.4:p.Glu149=
Search 100 bp 5'
Search 100 bp 3'