Canonical Allele Identifier: CA2137840
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs748611835
ExAC: 2:223917884 G / T
gnomAD v2: 2-223917884-G-T
gnomAD v4: 2-223053166-G-T
MyVariant Identifiers: chr2:g.223917884G>T (hg19) chr2:g.223053166G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053166G>T , CM000664.2:g.223053166G>T GRCh38
NC_000002.11:g.223917884G>T , CM000664.1:g.223917884G>T GRCh37
NC_000002.10:g.223626128G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.336G>T MANE Select ENSP00000281830.5:p.Ala112=
ENST00000281830.3:c.489G>T ENSP00000281830.4:p.Ala163=
ENST00000488477.2:n.75+892G>T
NM_080671.3:c.489G>T NP_542402.3:p.Ala163=
NM_080671.4:c.336G>T MANE Select NP_542402.4:p.Ala112=
Search 100 bp 5'
Search 100 bp 3'