Canonical Allele Identifier: CA359704920
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014058
ClinVar RCV Id: RCV001312737
dbSNP Id: rs1741169756

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461922T>A , CM000667.2:g.45461922T>A GRCh38
NC_000005.9:g.45462024T>A , CM000667.1:g.45462024T>A GRCh37
NC_000005.8:g.45497781T>A NCBI36
NG_042183.1:g.239197A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.935A>T MANE Select ENSP00000307342.4:p.Asp312Val
ENST00000637305.1:n.98A>T
ENST00000673735.1:c.935A>T ENSP00000501107.1:p.Asp312Val
ENST00000303230.5:c.935A>T ENSP00000307342.4:p.Asp312Val
NM_021072.3:c.935A>T NP_066550.2:p.Asp312Val
NM_021072.4:c.935A>T MANE Select NP_066550.2:p.Asp312Val