Canonical Allele Identifier: CA359706989
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2004527
ClinVar RCV Id: RCV002816157
COSMIC: COSM738638
MyVariant Identifiers: chr5:g.45645292C>T (hg19) chr5:g.45645190C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645190C>T , CM000667.2:g.45645190C>T GRCh38
NC_000005.9:g.45645292C>T , CM000667.1:g.45645292C>T GRCh37
NC_000005.8:g.45681049C>T NCBI36
NG_042183.1:g.55929G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.844G>A MANE Select ENSP00000307342.4:p.Glu282Lys
ENST00000637256.1:n.72G>A
ENST00000673735.1:c.844G>A ENSP00000501107.1:p.Glu282Lys
ENST00000303230.5:c.844G>A ENSP00000307342.4:p.Glu282Lys
ENST00000634658.1:c.844G>A ENSP00000489134.1:p.Glu282Lys
NM_021072.3:c.844G>A NP_066550.2:p.Glu282Lys
NM_021072.4:c.844G>A MANE Select NP_066550.2:p.Glu282Lys
Search 100 bp 5'
Search 100 bp 3'