Canonical Allele Identifier: CA3259184
Gene: HCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.45262586C>T
GRCh37 chr5:g.45262688C>T
Revel Score:
ENST00000303230 (MANE Select) 0.302
gnomAD v2:
5:45262688 C / T
gnomAD v3:
5:45262586 C / T
gnomAD v4:
chr5-45262586-C-T
Joint Max Group AF 0.00007733 (AMR)
Genomes Max Group AF 0.00026055 (AMR)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV000591084
RCV001089002
ClinVar Variation:
502422
dbSNP:
373454105
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45262586C>T , CM000667.2:g.45262586C>T GRCh38
NC_000005.9:g.45262688C>T , CM000667.1:g.45262688C>T GRCh37
NC_000005.8:g.45298445C>T NCBI36
NG_042183.1:g.438533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.2008G>A MANE Select ENSP00000307342.4:p.Ala670Thr
ENST00000637305.1:n.1171G>A
ENST00000673735.1:c.*233G>A ENSP00000501107.1:n.*233G>A
ENST00000303230.5:c.2008G>A ENSP00000307342.4:p.Ala670Thr
NM_021072.3:c.2008G>A NP_066550.2:p.Ala670Thr
NM_021072.4:c.2008G>A MANE Select NP_066550.2:p.Ala670Thr
Search 100 bp 5'
Search 100 bp 3'