Canonical Allele Identifier: CA359705003
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2764508
ClinVar RCV Id: RCV003590366
MyVariant Identifiers: chr5:g.45462060T>A (hg19) chr5:g.45461958T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461958T>A , CM000667.2:g.45461958T>A GRCh38
NC_000005.9:g.45462060T>A , CM000667.1:g.45462060T>A GRCh37
NC_000005.8:g.45497817T>A NCBI36
NG_042183.1:g.239161A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.899A>T MANE Select ENSP00000307342.4:p.Asn300Ile
ENST00000637305.1:n.62A>T
ENST00000673735.1:c.899A>T ENSP00000501107.1:p.Asn300Ile
ENST00000303230.5:c.899A>T ENSP00000307342.4:p.Asn300Ile
NM_021072.3:c.899A>T NP_066550.2:p.Asn300Ile
NM_021072.4:c.899A>T MANE Select NP_066550.2:p.Asn300Ile
Search 100 bp 5'
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