Canonical Allele Identifier: CA359704763

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45461976T>G (hg19) ; chr5:g.45461874T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461874T>G , CM000667.2:g.45461874T>G	GRCh38
NC_000005.9:g.45461976T>G , CM000667.1:g.45461976T>G	GRCh37
NC_000005.8:g.45497733T>G	NCBI36
NG_042183.1:g.239245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.983A>C MANE Select	ENSP00000307342.4:p.Asp328Ala
ENST00000637305.1:n.146A>C
ENST00000673735.1:c.983A>C	ENSP00000501107.1:p.Asp328Ala
ENST00000303230.5:c.983A>C	ENSP00000307342.4:p.Asp328Ala
NM_021072.3:c.983A>C	NP_066550.2:p.Asp328Ala
NM_021072.4:c.983A>C MANE Select	NP_066550.2:p.Asp328Ala