Canonical Allele Identifier: CA163275
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139575
ClinVar RCV Id: RCV000128462
dbSNP Id: rs587777495
COSMIC: COSM3744896
MyVariant Identifiers: chr5:g.45645301G>A (hg19) chr5:g.45645199G>A (hg38)
PubMed: PMID:24747641
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645199G>A , CM000667.2:g.45645199G>A GRCh38
NC_000005.9:g.45645301G>A , CM000667.1:g.45645301G>A GRCh37
NC_000005.8:g.45681058G>A NCBI36
NG_042183.1:g.55920C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.835C>T MANE Select ENSP00000307342.4:p.His279Tyr
ENST00000637256.1:n.63C>T
ENST00000673735.1:c.835C>T ENSP00000501107.1:p.His279Tyr
ENST00000303230.5:c.835C>T ENSP00000307342.4:p.His279Tyr
ENST00000634658.1:c.835C>T ENSP00000489134.1:p.His279Tyr
NM_021072.3:c.835C>T NP_066550.2:p.His279Tyr
NM_021072.4:c.835C>T MANE Select NP_066550.2:p.His279Tyr
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