Canonical Allele Identifier: CA444257759
Gene: HCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.45461975A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461873A>G , CM000667.2:g.45461873A>G GRCh38
NC_000005.9:g.45461975A>G , CM000667.1:g.45461975A>G GRCh37
NC_000005.8:g.45497732A>G NCBI36
NG_042183.1:g.239246T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.984T>C MANE Select ENSP00000307342.4:p.Asp328=
ENST00000637305.1:n.147T>C
ENST00000673735.1:c.984T>C ENSP00000501107.1:p.Asp328=
ENST00000303230.5:c.984T>C ENSP00000307342.4:p.Asp328=
NM_021072.3:c.984T>C NP_066550.2:p.Asp328=
NM_021072.4:c.984T>C MANE Select NP_066550.2:p.Asp328=