Canonical Allele Identifier: CA2137841
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs771589964
ExAC: 2:223917894 A / C
gnomAD v2: 2-223917894-A-C
gnomAD v3: 2-223053176-A-C
gnomAD v4: 2-223053176-A-C
MyVariant Identifiers: chr2:g.223917894A>C (hg19) chr2:g.223053176A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053176A>C , CM000664.2:g.223053176A>C GRCh38
NC_000002.11:g.223917894A>C , CM000664.1:g.223917894A>C GRCh37
NC_000002.10:g.223626138A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.346A>C MANE Select ENSP00000281830.5:p.Thr116Pro
ENST00000281830.3:c.499A>C ENSP00000281830.4:p.Thr167Pro
ENST00000488477.2:n.75+902A>C
NM_080671.3:c.499A>C NP_542402.3:p.Thr167Pro
NM_080671.4:c.346A>C MANE Select NP_542402.4:p.Thr116Pro
Search 100 bp 5'
Search 100 bp 3'