Canonical Allele Identifier: CA539515960
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1311056071
gnomAD v2: 2-223917963-CAGG-C
gnomAD v3: 2-223053245-CAGG-C
gnomAD v4: 2-223053245-CAGG-C
MyVariant Identifiers: chr2:g.223917964_223917966del (hg19) chr2:g.223053246_223053248del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053252_223053254del , CM000664.2:g.223053252_223053254del GRCh38
NC_000002.11:g.223917970_223917972del , CM000664.1:g.223917970_223917972del GRCh37
NC_000002.10:g.223626214_223626216del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.422_424del MANE Select ENSP00000281830.5:p.Glu141del
ENST00000281830.3:c.575_577del ENSP00000281830.4:p.Glu192del
ENST00000488477.2:n.75+978_75+980del
NM_080671.3:c.575_577del NP_542402.3:p.Glu192del
NM_080671.4:c.422_424del MANE Select NP_542402.4:p.Glu141del
Search 100 bp 5'
Search 100 bp 3'