Canonical Allele Identifier: CA66396463
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs761346750
gnomAD v2: 2-223918199-TG-T
gnomAD v3: 2-223053481-TG-T
gnomAD v4: 2-223053481-TG-T
MyVariant Identifiers: chr2:g.223918200del (hg19) chr2:g.223053482del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053485del , CM000664.2:g.223053485del GRCh38
NC_000002.11:g.223918203del , CM000664.1:g.223918203del GRCh37
NC_000002.10:g.223626447del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*142del MANE Select ENSP00000281830.5:n.*142del
ENST00000281830.3:c.*142del ENSP00000281830.4:n.*142del
ENST00000488477.2:n.75+1211del
NM_080671.3:c.*142del NP_542402.3:n.*142del
NM_080671.4:c.*142del MANE Select NP_542402.4:n.*142del
Search 100 bp 5'
Search 100 bp 3'