Canonical Allele Identifier: CA118303547

Gene: HCN1

Linked Data

• dbSNP Id: rs267600646
• MyVariant Identifiers: chr5:g.45462098C>T (hg19) ; chr5:g.45461996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461996C>T , CM000667.2:g.45461996C>T	GRCh38
NC_000005.9:g.45462098C>T , CM000667.1:g.45462098C>T	GRCh37
NC_000005.8:g.45497855C>T	NCBI36
NG_042183.1:g.239123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.861G>A MANE Select	ENSP00000307342.4:p.Met287Ile
ENST00000637305.1:n.24G>A
ENST00000673735.1:c.861G>A	ENSP00000501107.1:p.Met287Ile
ENST00000303230.5:c.861G>A	ENSP00000307342.4:p.Met287Ile
NM_021072.3:c.861G>A	NP_066550.2:p.Met287Ile
NM_021072.4:c.861G>A MANE Select	NP_066550.2:p.Met287Ile