Canonical Allele Identifier: CA118303569

Gene: HCN1

Linked Data

• dbSNP Id: rs975281189
• gnomAD v2: 5-45462311-A-G
• gnomAD v3: 5-45462209-A-G
• gnomAD v4: 5-45462209-A-G
• MyVariant Identifiers: chr5:g.45462311A>G (hg19) ; chr5:g.45462209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45462209A>G , CM000667.2:g.45462209A>G	GRCh38
NC_000005.9:g.45462311A>G , CM000667.1:g.45462311A>G	GRCh37
NC_000005.8:g.45498068A>G	NCBI36
NG_042183.1:g.238910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.850-202T>C MANE Select	ENSP00000307342.4:n.850-202T>C
ENST00000637305.1:n.13-202T>C
ENST00000673735.1:c.850-202T>C	ENSP00000501107.1:n.850-202T>C
ENST00000303230.5:c.850-202T>C	ENSP00000307342.4:n.850-202T>C
NM_021072.3:c.850-202T>C	NP_066550.2:n.850-202T>C
NM_021072.4:c.850-202T>C MANE Select	NP_066550.2:n.850-202T>C