Canonical Allele Identifier: CA444401757
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1657102
ClinVar RCV Id: RCV002169155
dbSNP Id: rs2112032005
MyVariant Identifiers: chr5:g.45645455G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645353G>T , CM000667.2:g.45645353G>T GRCh38
NC_000005.9:g.45645455G>T , CM000667.1:g.45645455G>T GRCh37
NC_000005.8:g.45681212G>T NCBI36
NG_042183.1:g.55766C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.681C>A MANE Select ENSP00000307342.4:p.Ile227=
ENST00000673735.1:c.681C>A ENSP00000501107.1:p.Ile227=
ENST00000303230.5:c.681C>A ENSP00000307342.4:p.Ile227=
ENST00000634658.1:c.681C>A ENSP00000489134.1:p.Ile227=
NM_021072.3:c.681C>A NP_066550.2:p.Ile227=
NM_021072.4:c.681C>A MANE Select NP_066550.2:p.Ile227=
Search 100 bp 5'
Search 100 bp 3'