Canonical Allele Identifier: CA351121217
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917834G>T (hg19) chr2:g.223053116G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053116G>T , CM000664.2:g.223053116G>T GRCh38
NC_000002.11:g.223917834G>T , CM000664.1:g.223917834G>T GRCh37
NC_000002.10:g.223626078G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.286G>T MANE Select ENSP00000281830.5:p.Val96Leu
ENST00000281830.3:c.439G>T ENSP00000281830.4:p.Val147Leu
ENST00000488477.2:n.75+842G>T
NM_080671.3:c.439G>T NP_542402.3:p.Val147Leu
NM_080671.4:c.286G>T MANE Select NP_542402.4:p.Val96Leu
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