Canonical Allele Identifier: CA7217264
Gene: KCNH5 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.62708110C>A
GRCh37 chr14:g.63174828C>A
Revel Score:
ENST00000322893 (MANE Select) 0.424
gnomAD v2:
14:63174828 C / A
gnomAD v3:
14:62708110 C / A
gnomAD v4:
chr14-62708110-C-A
Joint Max Group AF 0.00090205 (AFR)
Genomes Max Group AF 0.00104408 (AFR)
Exomes Max Group AF 0.00056913 (AFR)
ClinVar RCV:
RCV000636550
ClinVar Variation:
530610
dbSNP:
140205536
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62708110C>A , CM000676.2:g.62708110C>A GRCh38
NC_000014.8:g.63174828C>A , CM000676.1:g.63174828C>A GRCh37
NC_000014.7:g.62244581C>A NCBI36
NG_034062.1:g.342129G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.2365G>T MANE Select ENSP00000321427.7:p.Gly789Cys
ENST00000322893.11:c.2365G>T ENSP00000321427.7:p.Gly789Cys
ENST00000420622.6:c.2168G>T ENSP00000395439.2:n.2168G>T
NM_139318.4:c.2365G>T NP_647479.2:p.Gly789Cys
NM_172375.2:c.*332G>T NP_758963.1:n.*332G>T
NM_139318.5:c.2365G>T MANE Select NP_647479.2:p.Gly789Cys
NM_172375.3:c.*332G>T NP_758963.1:n.*332G>T
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