Canonical Allele Identifier: CA351121544
Gene: KCNE4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.223053265T>A
GRCh37 chr2:g.223917983T>A
Revel Score:
ENST00000281830 (MANE Select) 0.136
gnomAD v2:
2:223917983 T / A
gnomAD v3:
2:223053265 T / A
gnomAD v4:
chr2-223053265-T-A
Joint Max Group AF 0.00001533 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
dbSNP:
12621643
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053265T>A , CM000664.2:g.223053265T>A GRCh38
NC_000002.11:g.223917983T>A , CM000664.1:g.223917983T>A GRCh37
NC_000002.10:g.223626227T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.435T>A MANE Select ENSP00000281830.5:p.Asp145Glu
ENST00000281830.3:c.588T>A ENSP00000281830.4:p.Asp196Glu
ENST00000488477.2:n.75+991T>A
NM_080671.3:c.588T>A NP_542402.3:p.Asp196Glu
NM_080671.4:c.435T>A MANE Select NP_542402.4:p.Asp145Glu
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