Canonical Allele Identifier: CA647533791
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1401901723
gnomAD v3: 2-223053568-G-A
gnomAD v4: 2-223053568-G-A
COSMIC: COSN8608697
MyVariant Identifiers: chr2:g.223918286G>A (hg19) chr2:g.223053568G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053568G>A , CM000664.2:g.223053568G>A GRCh38
NC_000002.11:g.223918286G>A , CM000664.1:g.223918286G>A GRCh37
NC_000002.10:g.223626530G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*225G>A MANE Select ENSP00000281830.5:n.*225G>A
ENST00000281830.3:c.*225G>A ENSP00000281830.4:n.*225G>A
ENST00000488477.2:n.75+1294G>A
NM_080671.3:c.*225G>A NP_542402.3:n.*225G>A
NM_080671.4:c.*225G>A MANE Select NP_542402.4:n.*225G>A
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