Canonical Allele Identifier: CA444258205
Gene: HCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.45462056G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461954G>T , CM000667.2:g.45461954G>T GRCh38
NC_000005.9:g.45462056G>T , CM000667.1:g.45462056G>T GRCh37
NC_000005.8:g.45497813G>T NCBI36
NG_042183.1:g.239165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.903C>A MANE Select ENSP00000307342.4:p.Leu301=
ENST00000637305.1:n.66C>A
ENST00000673735.1:c.903C>A ENSP00000501107.1:p.Leu301=
ENST00000303230.5:c.903C>A ENSP00000307342.4:p.Leu301=
NM_021072.3:c.903C>A NP_066550.2:p.Leu301=
NM_021072.4:c.903C>A MANE Select NP_066550.2:p.Leu301=