Canonical Allele Identifier: CA351121181
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1698719906
gnomAD v4: 2-223053096-T-G
MyVariant Identifiers: chr2:g.223917814T>G (hg19) chr2:g.223053096T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053096T>G , CM000664.2:g.223053096T>G GRCh38
NC_000002.11:g.223917814T>G , CM000664.1:g.223917814T>G GRCh37
NC_000002.10:g.223626058T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.266T>G MANE Select ENSP00000281830.5:p.Val89Gly
ENST00000281830.3:c.419T>G ENSP00000281830.4:p.Val140Gly
ENST00000488477.2:n.75+822T>G
NM_080671.3:c.419T>G NP_542402.3:p.Val140Gly
NM_080671.4:c.266T>G MANE Select NP_542402.4:p.Val89Gly
Search 100 bp 5'
Search 100 bp 3'