Canonical Allele Identifier: CA7217603
Gene: KCNH5 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.62981081T>C
GRCh37 chr14:g.63447799T>C
Revel Score:
ENST00000322893 (MANE Select) 0.304
ENST00000420622 0.304
ENST00000394968 0.304
ENST00000394964 0.304
gnomAD v2:
14:63447799 T / C
gnomAD v3:
14:62981081 T / C
gnomAD v4:
chr14-62981081-T-C
Joint Max Group AF 0.00024811 (AMR)
Genomes Max Group AF 0.00017002 (AMR)
Exomes Max Group AF 0.00022385 (AMR)
ClinVar RCV:
RCV000542290
RCV003159791
ClinVar Variation:
461398
dbSNP:
754761406
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62981081T>C , CM000676.2:g.62981081T>C GRCh38
NC_000014.8:g.63447799T>C , CM000676.1:g.63447799T>C GRCh37
NC_000014.7:g.62517552T>C NCBI36
NG_034062.1:g.69158A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.733A>G MANE Select ENSP00000321427.7:p.Ile245Val
ENST00000322893.11:c.733A>G ENSP00000321427.7:p.Ile245Val
ENST00000394964.3:n.898A>G
ENST00000394968.2:c.559A>G ENSP00000378419.1:p.Ile187Val
ENST00000420622.6:c.733A>G ENSP00000395439.2:p.Ile245Val
NM_139318.4:c.733A>G NP_647479.2:p.Ile245Val
NM_172375.2:c.733A>G NP_758963.1:p.Ile245Val
XM_011536658.1:c.733A>G XP_011534960.1:p.Ile245Val
NM_139318.5:c.733A>G MANE Select NP_647479.2:p.Ile245Val
NM_172375.3:c.733A>G NP_758963.1:p.Ile245Val
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