Canonical Allele Identifier: CA359704953

Gene: HCN1

Linked Data

• MyVariant Identifiers: chr5:g.45462037G>T (hg19) ; chr5:g.45461935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45461935G>T , CM000667.2:g.45461935G>T	GRCh38
NC_000005.9:g.45462037G>T , CM000667.1:g.45462037G>T	GRCh37
NC_000005.8:g.45497794G>T	NCBI36
NG_042183.1:g.239184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.922C>A MANE Select	ENSP00000307342.4:p.Leu308Met
ENST00000637305.1:n.85C>A
ENST00000673735.1:c.922C>A	ENSP00000501107.1:p.Leu308Met
ENST00000303230.5:c.922C>A	ENSP00000307342.4:p.Leu308Met
NM_021072.3:c.922C>A	NP_066550.2:p.Leu308Met
NM_021072.4:c.922C>A MANE Select	NP_066550.2:p.Leu308Met