Canonical Allele Identifier: CA1543652919
Community Standard Title: NM_021072.4(HCN1):c.1201G= (p.Asp401=)
Gene: HCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45396521C= , CM000667.2:g.45396521C= GRCh38
NC_000005.9:g.45396623C= , CM000667.1:g.45396623C= GRCh37
NC_000005.8:g.45432380C= NCBI36
NG_042183.1:g.304598G=

Transcript Alleles

HGVS Amino-acid Change
NM_021072.4:c.1201G= MANE Select NP_066550.2:p.Asp401=
ENST00000303230.6:c.1201G= MANE Select ENSP00000307342.4:p.Asp401=
NM_021072.3:c.1201G= NP_066550.2:p.Asp401=
ENST00000303230.5:c.1201G= ENSP00000307342.4:p.Asp401=
ENST00000637305.1:n.364G=
ENST00000673735.1:c.1201G= ENSP00000501107.1:p.Asp401=