Canonical Allele Identifier: CA351121549
Gene: KCNE4 HGNC NCBI

Linked Data

gnomAD v4: 2-223053267-A-G
MyVariant Identifiers: chr2:g.223917985A>G (hg19) chr2:g.223053267A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053267A>G , CM000664.2:g.223053267A>G GRCh38
NC_000002.11:g.223917985A>G , CM000664.1:g.223917985A>G GRCh37
NC_000002.10:g.223626229A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.437A>G MANE Select ENSP00000281830.5:p.Glu146Gly
ENST00000281830.3:c.590A>G ENSP00000281830.4:p.Glu197Gly
ENST00000488477.2:n.75+993A>G
NM_080671.3:c.590A>G NP_542402.3:p.Glu197Gly
NM_080671.4:c.437A>G MANE Select NP_542402.4:p.Glu146Gly
Search 100 bp 5'
Search 100 bp 3'