Canonical Allele Identifier: CA351121554
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1319675390
MyVariant Identifiers: chr2:g.223917987C>A (hg19) chr2:g.223053269C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053269C>A , CM000664.2:g.223053269C>A GRCh38
NC_000002.11:g.223917987C>A , CM000664.1:g.223917987C>A GRCh37
NC_000002.10:g.223626231C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.439C>A MANE Select ENSP00000281830.5:p.Leu147Met
ENST00000281830.3:c.592C>A ENSP00000281830.4:p.Leu198Met
ENST00000488477.2:n.75+995C>A
NM_080671.3:c.592C>A NP_542402.3:p.Leu198Met
NM_080671.4:c.439C>A MANE Select NP_542402.4:p.Leu147Met
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