Canonical Allele Identifier: CA351121243
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917847T>A (hg19) chr2:g.223053129T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053129T>A , CM000664.2:g.223053129T>A GRCh38
NC_000002.11:g.223917847T>A , CM000664.1:g.223917847T>A GRCh37
NC_000002.10:g.223626091T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.299T>A MANE Select ENSP00000281830.5:p.Leu100Gln
ENST00000281830.3:c.452T>A ENSP00000281830.4:p.Leu151Gln
ENST00000488477.2:n.75+855T>A
NM_080671.3:c.452T>A NP_542402.3:p.Leu151Gln
NM_080671.4:c.299T>A MANE Select NP_542402.4:p.Leu100Gln
Search 100 bp 5'
Search 100 bp 3'