Canonical Allele Identifier: CA3259405

Gene: HCN1

Linked Data

• dbSNP Id: rs779555889
• ExAC: 5:45645242 A / G
• gnomAD v2: 5-45645242-A-G
• gnomAD v3: 5-45645140-A-G
• gnomAD v4: 5-45645140-A-G
• MyVariant Identifiers: chr5:g.45645242A>G (hg19) ; chr5:g.45645140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645140A>G , CM000667.2:g.45645140A>G	GRCh38
NC_000005.9:g.45645242A>G , CM000667.1:g.45645242A>G	GRCh37
NC_000005.8:g.45680999A>G	NCBI36
NG_042183.1:g.55979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.849+45T>C MANE Select	ENSP00000307342.4:n.849+45T>C
ENST00000637256.1:n.77+45T>C
ENST00000673735.1:c.849+45T>C	ENSP00000501107.1:n.849+45T>C
ENST00000303230.5:c.849+45T>C	ENSP00000307342.4:n.849+45T>C
ENST00000634658.1:c.*6T>C	ENSP00000489134.1:n.*6T>C
NM_021072.3:c.849+45T>C	NP_066550.2:n.849+45T>C
NM_021072.4:c.849+45T>C MANE Select	NP_066550.2:n.849+45T>C