Canonical Allele Identifier: CA359705174
Community Standard Title: NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln)
Gene: HCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45396508C>T , CM000667.2:g.45396508C>T GRCh38
NC_000005.9:g.45396610C>T , CM000667.1:g.45396610C>T GRCh37
NC_000005.8:g.45432367C>T NCBI36
NG_042183.1:g.304611G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021072.4:c.1214G>A MANE Select NP_066550.2:p.Arg405Gln
ENST00000303230.6:c.1214G>A MANE Select ENSP00000307342.4:p.Arg405Gln
NM_021072.3:c.1214G>A NP_066550.2:p.Arg405Gln
ENST00000303230.5:c.1214G>A ENSP00000307342.4:p.Arg405Gln
ENST00000637305.1:n.377G>A
ENST00000673735.1:c.1214G>A ENSP00000501107.1:p.Arg405Gln