Canonical Allele Identifier: CA359705049

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45462081C>A (hg19) ; chr5:g.45461979C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461979C>A , CM000667.2:g.45461979C>A	GRCh38
NC_000005.9:g.45462081C>A , CM000667.1:g.45462081C>A	GRCh37
NC_000005.8:g.45497838C>A	NCBI36
NG_042183.1:g.239140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.878G>T MANE Select	ENSP00000307342.4:p.Ser293Ile
ENST00000637305.1:n.41G>T
ENST00000673735.1:c.878G>T	ENSP00000501107.1:p.Ser293Ile
ENST00000303230.5:c.878G>T	ENSP00000307342.4:p.Ser293Ile
NM_021072.3:c.878G>T	NP_066550.2:p.Ser293Ile
NM_021072.4:c.878G>T MANE Select	NP_066550.2:p.Ser293Ile