Canonical Allele Identifier: CA2137827
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs766205723
ExAC: 2:223917792 G / A
gnomAD v2: 2-223917792-G-A
gnomAD v3: 2-223053074-G-A
gnomAD v4: 2-223053074-G-A
MyVariant Identifiers: chr2:g.223917792G>A (hg19) chr2:g.223053074G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053074G>A , CM000664.2:g.223053074G>A GRCh38
NC_000002.11:g.223917792G>A , CM000664.1:g.223917792G>A GRCh37
NC_000002.10:g.223626036G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.244G>A MANE Select ENSP00000281830.5:p.Glu82Lys
ENST00000281830.3:c.397G>A ENSP00000281830.4:p.Glu133Lys
ENST00000488477.2:n.75+800G>A
NM_080671.3:c.397G>A NP_542402.3:p.Glu133Lys
NM_080671.4:c.244G>A MANE Select NP_542402.4:p.Glu82Lys
Search 100 bp 5'
Search 100 bp 3'