Canonical Allele Identifier: CA118303544

Gene: HCN1

Linked Data

• dbSNP Id: rs1000142153
• MyVariant Identifiers: chr5:g.45461979G>T (hg19) ; chr5:g.45461877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461877G>T , CM000667.2:g.45461877G>T	GRCh38
NC_000005.9:g.45461979G>T , CM000667.1:g.45461979G>T	GRCh37
NC_000005.8:g.45497736G>T	NCBI36
NG_042183.1:g.239242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.980C>A MANE Select	ENSP00000307342.4:p.Pro327Gln
ENST00000637305.1:n.143C>A
ENST00000673735.1:c.980C>A	ENSP00000501107.1:p.Pro327Gln
ENST00000303230.5:c.980C>A	ENSP00000307342.4:p.Pro327Gln
NM_021072.3:c.980C>A	NP_066550.2:p.Pro327Gln
NM_021072.4:c.980C>A MANE Select	NP_066550.2:p.Pro327Gln