Canonical Allele Identifier: CA431669527
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs748611835
gnomAD v3: 2-223053166-G-A
gnomAD v4: 2-223053166-G-A
COSMIC: COSM5511844
MyVariant Identifiers: chr2:g.223917884G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053166G>A , CM000664.2:g.223053166G>A GRCh38
NC_000002.11:g.223917884G>A , CM000664.1:g.223917884G>A GRCh37
NC_000002.10:g.223626128G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.336G>A MANE Select ENSP00000281830.5:p.Ala112=
ENST00000281830.3:c.489G>A ENSP00000281830.4:p.Ala163=
ENST00000488477.2:n.75+892G>A
NM_080671.3:c.489G>A NP_542402.3:p.Ala163=
NM_080671.4:c.336G>A MANE Select NP_542402.4:p.Ala112=
Search 100 bp 5'
Search 100 bp 3'