Canonical Allele Identifier: CA118324607
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350715
ClinVar RCV Id: RCV002042075
dbSNP Id: rs377021158
gnomAD v2: 5-45645433-T-C
gnomAD v3: 5-45645331-T-C
gnomAD v4: 5-45645331-T-C
MyVariant Identifiers: chr5:g.45645433T>C (hg19) chr5:g.45645331T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645331T>C , CM000667.2:g.45645331T>C GRCh38
NC_000005.9:g.45645433T>C , CM000667.1:g.45645433T>C GRCh37
NC_000005.8:g.45681190T>C NCBI36
NG_042183.1:g.55788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.703A>G MANE Select ENSP00000307342.4:p.Ile235Val
ENST00000673735.1:c.703A>G ENSP00000501107.1:p.Ile235Val
ENST00000303230.5:c.703A>G ENSP00000307342.4:p.Ile235Val
ENST00000634658.1:c.703A>G ENSP00000489134.1:p.Ile235Val
NM_021072.3:c.703A>G NP_066550.2:p.Ile235Val
NM_021072.4:c.703A>G MANE Select NP_066550.2:p.Ile235Val
Search 100 bp 5'
Search 100 bp 3'