Canonical Allele Identifier: CA351121556
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1171060785
gnomAD v2: 2-223917988-T-C
gnomAD v3: 2-223053270-T-C
gnomAD v4: 2-223053270-T-C
MyVariant Identifiers: chr2:g.223917988T>C (hg19) chr2:g.223053270T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053270T>C , CM000664.2:g.223053270T>C GRCh38
NC_000002.11:g.223917988T>C , CM000664.1:g.223917988T>C GRCh37
NC_000002.10:g.223626232T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.440T>C MANE Select ENSP00000281830.5:p.Leu147Pro
ENST00000281830.3:c.593T>C ENSP00000281830.4:p.Leu198Pro
ENST00000488477.2:n.75+996T>C
NM_080671.3:c.593T>C NP_542402.3:p.Leu198Pro
NM_080671.4:c.440T>C MANE Select NP_542402.4:p.Leu147Pro
Search 100 bp 5'
Search 100 bp 3'