Canonical Allele Identifier: CA359704300
Gene: HCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.45262614C>T
GRCh37 chr5:g.45262716C>T
Revel Score:
ENST00000303230 (MANE Select) 0.276
gnomAD v2:
5:45262716 C / T
gnomAD v3:
5:45262614 C / T
gnomAD v4:
chr5-45262614-C-T
Joint Max Group AF 0.00000444 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000636396
RCV001547515
ClinVar Variation:
530509
dbSNP:
1335934380
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45262614C>T , CM000667.2:g.45262614C>T GRCh38
NC_000005.9:g.45262716C>T , CM000667.1:g.45262716C>T GRCh37
NC_000005.8:g.45298473C>T NCBI36
NG_042183.1:g.438505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.1980G>A MANE Select ENSP00000307342.4:p.Met660Ile
ENST00000637305.1:n.1143G>A
ENST00000673735.1:c.*205G>A ENSP00000501107.1:n.*205G>A
ENST00000303230.5:c.1980G>A ENSP00000307342.4:p.Met660Ile
NM_021072.3:c.1980G>A NP_066550.2:p.Met660Ile
NM_021072.4:c.1980G>A MANE Select NP_066550.2:p.Met660Ile
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