Allele Registry

Canonical Allele Identifier: CA11327219

Gene: KCNE4 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.223158578A>C

GRCh37 chr2:g.224023296A>C

Linked Data - Sequence & Population

gnomAD v2:

2:224023296 A / C

gnomAD v3:

2:223158578 A / C

gnomAD v4:

chr2-223158578-A-C

Joint Max Group AF 0.33820243 (EAS)

Genomes Max Group AF 0.33820243 (EAS)

Linked Data - NCBI & NCI

dbSNP:

895767

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223158578A>C , CM000664.2:g.223158578A>C	GRCh38
NC_000002.11:g.224023296A>C , CM000664.1:g.224023296A>C	GRCh37
NC_000002.10:g.223731540A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488477.2:n.190-34491A>C

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