Canonical Allele Identifier: CA7217178
Gene: KCNH5 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.62707647G>A
GRCh37 chr14:g.63174365G>A
Revel Score:
ENST00000322893 (MANE Select) 0.511
gnomAD v2:
14:63174365 G / A
gnomAD v3:
14:62707647 G / A
gnomAD v4:
chr14-62707647-G-A
Joint Max Group AF 0.00006665 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00006634 (NFE)
ClinVar RCV:
RCV000636271
ClinVar Variation:
530414
dbSNP:
761523326
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62707647G>A , CM000676.2:g.62707647G>A GRCh38
NC_000014.8:g.63174365G>A , CM000676.1:g.63174365G>A GRCh37
NC_000014.7:g.62244118G>A NCBI36
NG_034062.1:g.342592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.2828C>T MANE Select ENSP00000321427.7:p.Ser943Leu
ENST00000322893.11:c.2828C>T ENSP00000321427.7:p.Ser943Leu
ENST00000420622.6:c.2631C>T ENSP00000395439.2:n.2631C>T
NM_139318.4:c.2828C>T NP_647479.2:p.Ser943Leu
NM_172375.2:c.*795C>T NP_758963.1:n.*795C>T
NM_139318.5:c.2828C>T MANE Select NP_647479.2:p.Ser943Leu
NM_172375.3:c.*795C>T NP_758963.1:n.*795C>T
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