ClinGen Allele Registry
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Canonical Allele Identifier:
CA765356088
Gene: KCNE4
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.223072020C>A
GRCh37
chr2:g.223936738C>A
Linked Data - Sequence & Population
gnomAD v3:
2:223072020 C / A
gnomAD v4:
chr2-223072020-C-A
Linked Data - NCBI & NCI
dbSNP:
1440072
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.223072020C>A , CM000664.2:g.223072020C>A
GRCh38
NC_000002.11:g.223936738C>A , CM000664.1:g.223936738C>A
GRCh37
NC_000002.10:g.223644982C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000488477.2:n.189+11317C>A
Search 100 bp 5'
Search 100 bp 3'