Canonical Allele Identifier: CA444257943

Gene: HCN1

Linked Data

• dbSNP Id: rs2111627202
• gnomAD v4: 5-45461935-G-A
• MyVariant Identifiers: chr5:g.45462037G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.922C>T MANE Select	ENSP00000307342.4:p.Leu308=
ENST00000637305.1:n.85C>T
ENST00000673735.1:c.922C>T	ENSP00000501107.1:p.Leu308=
ENST00000303230.5:c.922C>T	ENSP00000307342.4:p.Leu308=
NM_021072.3:c.922C>T	NP_066550.2:p.Leu308=
NM_021072.4:c.922C>T MANE Select	NP_066550.2:p.Leu308=