Canonical Allele Identifier: CA559801735

Gene: HCN1

Linked Data

• dbSNP Id: rs1441462936
• gnomAD v2: 5-45645769-C-T
• gnomAD v3: 5-45645667-C-T
• gnomAD v4: 5-45645667-C-T
• MyVariant Identifiers: chr5:g.45645769C>T (hg19) ; chr5:g.45645667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645667C>T , CM000667.2:g.45645667C>T	GRCh38
NC_000005.9:g.45645769C>T , CM000667.1:g.45645769C>T	GRCh37
NC_000005.8:g.45681526C>T	NCBI36
NG_042183.1:g.55452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.426-59G>A MANE Select	ENSP00000307342.4:n.426-59G>A
ENST00000673735.1:c.426-59G>A	ENSP00000501107.1:n.426-59G>A
ENST00000303230.5:c.426-59G>A	ENSP00000307342.4:n.426-59G>A
ENST00000634658.1:c.426-59G>A	ENSP00000489134.1:n.426-59G>A
NM_021072.3:c.426-59G>A	NP_066550.2:n.426-59G>A
NM_021072.4:c.426-59G>A MANE Select	NP_066550.2:n.426-59G>A