Canonical Allele Identifier: CA3259425
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3052815
ClinVar RCV Id: RCV003971543
dbSNP Id: rs778870158
ExAC: 5:45645497 G / T
gnomAD v2: 5-45645497-G-T
MyVariant Identifiers: chr5:g.45645497G>T (hg19) chr5:g.45645395G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645395G>T , CM000667.2:g.45645395G>T GRCh38
NC_000005.9:g.45645497G>T , CM000667.1:g.45645497G>T GRCh37
NC_000005.8:g.45681254G>T NCBI36
NG_042183.1:g.55724C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.639C>A MANE Select ENSP00000307342.4:p.Ile213=
ENST00000673735.1:c.639C>A ENSP00000501107.1:p.Ile213=
ENST00000303230.5:c.639C>A ENSP00000307342.4:p.Ile213=
ENST00000634658.1:c.639C>A ENSP00000489134.1:p.Ile213=
NM_021072.3:c.639C>A NP_066550.2:p.Ile213=
NM_021072.4:c.639C>A MANE Select NP_066550.2:p.Ile213=
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