Canonical Allele Identifier: CA2141987226
Gene: KCNH5 HGNC NCBI
gnomAD v4:
chr14-63001326-A-G
Joint Max Group AF 0.00000757 (EAS)
Exomes Max Group AF 0.00000859 (EAS)
ClinVar RCV:
RCV003115104
ClinVar Variation:
2417635
dbSNP:
760681521
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.63001326A>G , CM000676.2:g.63001326A>G GRCh38
NC_000014.8:g.63468044A>G , CM000676.1:g.63468044A>G GRCh37
NC_000014.7:g.62537797A>G NCBI36
NG_034062.1:g.48913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.433+5T>C MANE Select ENSP00000321427.7:n.433+5T>C
ENST00000322893.11:c.433+5T>C ENSP00000321427.7:n.433+5T>C
ENST00000394964.3:n.598+5T>C
ENST00000394968.2:c.259+5T>C ENSP00000378419.1:n.259+5T>C
ENST00000420622.6:c.433+5T>C ENSP00000395439.2:n.433+5T>C
NM_139318.4:c.433+5T>C NP_647479.2:n.433+5T>C
NM_172375.2:c.433+5T>C NP_758963.1:n.433+5T>C
XM_011536658.1:c.433+5T>C XP_011534960.1:n.433+5T>C
NM_139318.5:c.433+5T>C MANE Select NP_647479.2:n.433+5T>C
NM_172375.3:c.433+5T>C NP_758963.1:n.433+5T>C
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