Canonical Allele Identifier: CA2137824
Gene: KCNE4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.223053069G>C
GRCh37 chr2:g.223917787G>C
Revel Score:
ENST00000281830 (MANE Select) 0.875
gnomAD v2:
2:223917787 G / C
gnomAD v3:
2:223053069 G / C
gnomAD v4:
chr2-223053069-G-C
Joint Max Group AF 0.00007257 (EAS)
Exomes Max Group AF 0.00006511 (EAS)
ClinVar Allele:
2196272
ClinVar RCV:
RCV004073622
ClinVar Variation:
2204172
dbSNP:
761363201
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053069G>C , CM000664.2:g.223053069G>C GRCh38
NC_000002.11:g.223917787G>C , CM000664.1:g.223917787G>C GRCh37
NC_000002.10:g.223626031G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.239G>C MANE Select ENSP00000281830.5:p.Trp80Ser
ENST00000281830.3:c.392G>C ENSP00000281830.4:p.Trp131Ser
ENST00000488477.2:n.75+795G>C
NM_080671.3:c.392G>C NP_542402.3:p.Trp131Ser
NM_080671.4:c.239G>C MANE Select NP_542402.4:p.Trp80Ser
Search 100 bp 5'
Search 100 bp 3'