Canonical Allele Identifier: CA163272
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139572
ClinVar RCV Id: RCV000128459 RCV001054783 RCV003448268
dbSNP Id: rs587777492
gnomAD v4: 5-45695795-G-A
COSMIC: COSM4849232
MyVariant Identifiers: chr5:g.45695897G>A (hg19) chr5:g.45695795G>A (hg38)
PubMed: PMID:24747641
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45695795G>A , CM000667.2:g.45695795G>A GRCh38
NC_000005.9:g.45695897G>A , CM000667.1:g.45695897G>A GRCh37
NC_000005.8:g.45731654G>A NCBI36
NG_042183.1:g.5324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.299C>T MANE Select ENSP00000307342.4:p.Ser100Phe
ENST00000673735.1:c.299C>T ENSP00000501107.1:p.Ser100Phe
ENST00000303230.5:c.299C>T ENSP00000307342.4:p.Ser100Phe
ENST00000634658.1:c.299C>T ENSP00000489134.1:p.Ser100Phe
NM_021072.3:c.299C>T NP_066550.2:p.Ser100Phe
NM_021072.4:c.299C>T MANE Select NP_066550.2:p.Ser100Phe
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