Canonical Allele Identifier: CA359707805
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 809755
ClinVar RCV Id: RCV000998380
dbSNP Id: rs1554037393
gnomAD v4: 5-45645546-C-T
MyVariant Identifiers: chr5:g.45645648C>T (hg19) chr5:g.45645546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645546C>T , CM000667.2:g.45645546C>T GRCh38
NC_000005.9:g.45645648C>T , CM000667.1:g.45645648C>T GRCh37
NC_000005.8:g.45681405C>T NCBI36
NG_042183.1:g.55573G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.488G>A MANE Select ENSP00000307342.4:p.Gly163Glu
ENST00000673735.1:c.488G>A ENSP00000501107.1:p.Gly163Glu
ENST00000303230.5:c.488G>A ENSP00000307342.4:p.Gly163Glu
ENST00000634658.1:c.488G>A ENSP00000489134.1:p.Gly163Glu
NM_021072.3:c.488G>A NP_066550.2:p.Gly163Glu
NM_021072.4:c.488G>A MANE Select NP_066550.2:p.Gly163Glu
Search 100 bp 5'
Search 100 bp 3'