Canonical Allele Identifier: CA444257729
Gene: HCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.45461966C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461864C>A , CM000667.2:g.45461864C>A GRCh38
NC_000005.9:g.45461966C>A , CM000667.1:g.45461966C>A GRCh37
NC_000005.8:g.45497723C>A NCBI36
NG_042183.1:g.239255G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.993G>T MANE Select ENSP00000307342.4:p.Val331=
ENST00000637305.1:n.156G>T
ENST00000673735.1:c.993G>T ENSP00000501107.1:p.Val331=
ENST00000303230.5:c.993G>T ENSP00000307342.4:p.Val331=
NM_021072.3:c.993G>T NP_066550.2:p.Val331=
NM_021072.4:c.993G>T MANE Select NP_066550.2:p.Val331=