Canonical Allele Identifier: CA359707708

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45645606A>T (hg19) ; chr5:g.45645504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645504A>T , CM000667.2:g.45645504A>T	GRCh38
NC_000005.9:g.45645606A>T , CM000667.1:g.45645606A>T	GRCh37
NC_000005.8:g.45681363A>T	NCBI36
NG_042183.1:g.55615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.530T>A MANE Select	ENSP00000307342.4:p.Ile177Asn
ENST00000673735.1:c.530T>A	ENSP00000501107.1:p.Ile177Asn
ENST00000303230.5:c.530T>A	ENSP00000307342.4:p.Ile177Asn
ENST00000634658.1:c.530T>A	ENSP00000489134.1:p.Ile177Asn
NM_021072.3:c.530T>A	NP_066550.2:p.Ile177Asn
NM_021072.4:c.530T>A MANE Select	NP_066550.2:p.Ile177Asn