Canonical Allele Identifier: CA431669538
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1395648217
gnomAD v3: 2-223053178-C-T
gnomAD v4: 2-223053178-C-T
MyVariant Identifiers: chr2:g.223917896C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053178C>T , CM000664.2:g.223053178C>T GRCh38
NC_000002.11:g.223917896C>T , CM000664.1:g.223917896C>T GRCh37
NC_000002.10:g.223626140C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.348C>T MANE Select ENSP00000281830.5:p.Thr116=
ENST00000281830.3:c.501C>T ENSP00000281830.4:p.Thr167=
ENST00000488477.2:n.75+904C>T
NM_080671.3:c.501C>T NP_542402.3:p.Thr167=
NM_080671.4:c.348C>T MANE Select NP_542402.4:p.Thr116=
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