Canonical Allele Identifier: CA811134836

Gene: HCN1

Linked Data

• ClinVar Variation Id: 1335580
• ClinVar RCV Id: RCV001815940 ; RCV002077271
• dbSNP Id: rs1394225411
• gnomAD v3: 5-45645612-CAACA-C
• gnomAD v4: 5-45645612-CAACA-C
• MyVariant Identifiers: chr5:g.45645715_45645718del (hg19) ; chr5:g.45645613_45645616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.45645615_45645618del , CM000667.2:g.45645615_45645618del	GRCh38
NC_000005.9:g.45645717_45645720del , CM000667.1:g.45645717_45645720del	GRCh37
NC_000005.8:g.45681474_45681477del	NCBI36
NG_042183.1:g.55503_55506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303230.6:c.426-8_426-5del MANE Select	ENSP00000307342.4:n.426-8_426-5del
ENST00000673735.1:c.426-8_426-5del	ENSP00000501107.1:n.426-8_426-5del
ENST00000303230.5:c.426-8_426-5del	ENSP00000307342.4:n.426-8_426-5del
ENST00000634658.1:c.426-8_426-5del	ENSP00000489134.1:n.426-8_426-5del
NM_021072.3:c.426-8_426-5del	NP_066550.2:n.426-8_426-5del
NM_021072.4:c.426-8_426-5del MANE Select	NP_066550.2:n.426-8_426-5del