Canonical Allele Identifier: CA351121119
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917784T>A (hg19) chr2:g.223053066T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053066T>A , CM000664.2:g.223053066T>A GRCh38
NC_000002.11:g.223917784T>A , CM000664.1:g.223917784T>A GRCh37
NC_000002.10:g.223626028T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.236T>A MANE Select ENSP00000281830.5:p.Leu79His
ENST00000281830.3:c.389T>A ENSP00000281830.4:p.Leu130His
ENST00000488477.2:n.75+792T>A
NM_080671.3:c.389T>A NP_542402.3:p.Leu130His
NM_080671.4:c.236T>A MANE Select NP_542402.4:p.Leu79His
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