Canonical Allele Identifier: CA7217315
Gene: KCNH5 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.62708378G>T
GRCh37 chr14:g.63175096G>T
Revel Score:
ENST00000322893 (MANE Select) 0.116
gnomAD v2:
14:63175096 G / T
gnomAD v3:
14:62708378 G / T
gnomAD v4:
chr14-62708378-G-T
Joint Max Group AF 0.00123368 (AMR)
Genomes Max Group AF 0.00146619 (AMR)
Exomes Max Group AF 0.00102938 (AMR)
ClinVar RCV:
RCV000468994
RCV002525582
ClinVar Variation:
410375
dbSNP:
148812753
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62708378G>T , CM000676.2:g.62708378G>T GRCh38
NC_000014.8:g.63175096G>T , CM000676.1:g.63175096G>T GRCh37
NC_000014.7:g.62244849G>T NCBI36
NG_034062.1:g.341861C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.2097C>A MANE Select ENSP00000321427.7:p.Ser699Arg
ENST00000322893.11:c.2097C>A ENSP00000321427.7:p.Ser699Arg
ENST00000420622.6:c.1900C>A ENSP00000395439.2:n.1900C>A
NM_139318.4:c.2097C>A NP_647479.2:p.Ser699Arg
NM_172375.2:c.*64C>A NP_758963.1:n.*64C>A
NM_139318.5:c.2097C>A MANE Select NP_647479.2:p.Ser699Arg
NM_172375.3:c.*64C>A NP_758963.1:n.*64C>A
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