Canonical Allele Identifier: CA351121335
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1486970866
gnomAD v2: 2-223917889-C-G
MyVariant Identifiers: chr2:g.223917889C>G (hg19) chr2:g.223053171C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053171C>G , CM000664.2:g.223053171C>G GRCh38
NC_000002.11:g.223917889C>G , CM000664.1:g.223917889C>G GRCh37
NC_000002.10:g.223626133C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.341C>G MANE Select ENSP00000281830.5:p.Ser114Cys
ENST00000281830.3:c.494C>G ENSP00000281830.4:p.Ser165Cys
ENST00000488477.2:n.75+897C>G
NM_080671.3:c.494C>G NP_542402.3:p.Ser165Cys
NM_080671.4:c.341C>G MANE Select NP_542402.4:p.Ser114Cys
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