Canonical Allele Identifier: CA359704755

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45461975A>C (hg19) ; chr5:g.45461873A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.984T>G MANE Select	ENSP00000307342.4:p.Asp328Glu
ENST00000637305.1:n.147T>G
ENST00000673735.1:c.984T>G	ENSP00000501107.1:p.Asp328Glu
ENST00000303230.5:c.984T>G	ENSP00000307342.4:p.Asp328Glu
NM_021072.3:c.984T>G	NP_066550.2:p.Asp328Glu
NM_021072.4:c.984T>G MANE Select	NP_066550.2:p.Asp328Glu