Canonical Allele Identifier: CA765344053
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1432435320
gnomAD v3: 2-223053626-A-C
gnomAD v4: 2-223053626-A-C
MyVariant Identifiers: chr2:g.223918344A>C (hg19) chr2:g.223053626A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053626A>C , CM000664.2:g.223053626A>C GRCh38
NC_000002.11:g.223918344A>C , CM000664.1:g.223918344A>C GRCh37
NC_000002.10:g.223626588A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*283A>C MANE Select ENSP00000281830.5:n.*283A>C
ENST00000281830.3:c.*283A>C ENSP00000281830.4:n.*283A>C
ENST00000488477.2:n.75+1352A>C
NM_080671.3:c.*283A>C NP_542402.3:n.*283A>C
NM_080671.4:c.*283A>C MANE Select NP_542402.4:n.*283A>C
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