Canonical Allele Identifier: CA359704938
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342851
ClinVar RCV Id: RCV001840951
dbSNP Id: rs2111627182
COSMIC: COSM385366
MyVariant Identifiers: chr5:g.45462031G>A (hg19) chr5:g.45461929G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461929G>A , CM000667.2:g.45461929G>A GRCh38
NC_000005.9:g.45462031G>A , CM000667.1:g.45462031G>A GRCh37
NC_000005.8:g.45497788G>A NCBI36
NG_042183.1:g.239190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.928C>T MANE Select ENSP00000307342.4:p.His310Tyr
ENST00000637305.1:n.91C>T
ENST00000673735.1:c.928C>T ENSP00000501107.1:p.His310Tyr
ENST00000303230.5:c.928C>T ENSP00000307342.4:p.His310Tyr
NM_021072.3:c.928C>T NP_066550.2:p.His310Tyr
NM_021072.4:c.928C>T MANE Select NP_066550.2:p.His310Tyr
Search 100 bp 5'
Search 100 bp 3'