Canonical Allele Identifier: CA431669529
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1233568240
gnomAD v2: 2-223917885-C-T
gnomAD v4: 2-223053167-C-T
MyVariant Identifiers: chr2:g.223917885C>T (hg19) chr2:g.223053167C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053167C>T , CM000664.2:g.223053167C>T GRCh38
NC_000002.11:g.223917885C>T , CM000664.1:g.223917885C>T GRCh37
NC_000002.10:g.223626129C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.337C>T MANE Select ENSP00000281830.5:p.Leu113=
ENST00000281830.3:c.490C>T ENSP00000281830.4:p.Leu164=
ENST00000488477.2:n.75+893C>T
NM_080671.3:c.490C>T NP_542402.3:p.Leu164=
NM_080671.4:c.337C>T MANE Select NP_542402.4:p.Leu113=
Search 100 bp 5'
Search 100 bp 3'