Canonical Allele Identifier: CA2137859
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs776517721
ExAC: 2:223917980 CGAT / C
gnomAD v2: 2-223917980-CGAT-C
gnomAD v3: 2-223053262-CGAT-C
gnomAD v4: 2-223053262-CGAT-C
MyVariant Identifiers: chr2:g.223917981_223917983del (hg19) chr2:g.223053263_223053265del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053265_223053267del , CM000664.2:g.223053265_223053267del GRCh38
NC_000002.11:g.223917983_223917985del , CM000664.1:g.223917983_223917985del GRCh37
NC_000002.10:g.223626227_223626229del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.435_437del MANE Select ENSP00000281830.5:p.Asp145del
ENST00000281830.3:c.588_590del ENSP00000281830.4:p.Asp196del
ENST00000488477.2:n.75+991_75+993del
NM_080671.3:c.588_590del NP_542402.3:p.Asp196del
NM_080671.4:c.435_437del MANE Select NP_542402.4:p.Asp145del
Search 100 bp 5'
Search 100 bp 3'