Canonical Allele Identifier: CA359707166
Community Standard Title: NM_021072.4(HCN1):c.763C>T (p.Arg255Cys)
Gene: HCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645271G>A , CM000667.2:g.45645271G>A GRCh38
NC_000005.9:g.45645373G>A , CM000667.1:g.45645373G>A GRCh37
NC_000005.8:g.45681130G>A NCBI36
NG_042183.1:g.55848C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021072.4:c.763C>T MANE Select NP_066550.2:p.Arg255Cys
ENST00000303230.6:c.763C>T MANE Select ENSP00000307342.4:p.Arg255Cys
NM_021072.3:c.763C>T NP_066550.2:p.Arg255Cys
ENST00000303230.5:c.763C>T ENSP00000307342.4:p.Arg255Cys
ENST00000634658.1:c.763C>T ENSP00000489134.1:p.Arg255Cys
ENST00000673735.1:c.763C>T ENSP00000501107.1:p.Arg255Cys