Canonical Allele Identifier: CA811095566
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1279124783
gnomAD v3: 5-45462283-GT-G
gnomAD v4: 5-45462283-GT-G
MyVariant Identifiers: chr5:g.45462386del (hg19) chr5:g.45462284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462288del , CM000667.2:g.45462288del GRCh38
NC_000005.9:g.45462390del , CM000667.1:g.45462390del GRCh37
NC_000005.8:g.45498147del NCBI36
NG_042183.1:g.238835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-277del MANE Select ENSP00000307342.4:n.850-277del
ENST00000637305.1:n.13-277del
ENST00000673735.1:c.850-277del ENSP00000501107.1:n.850-277del
ENST00000303230.5:c.850-277del ENSP00000307342.4:n.850-277del
NM_021072.3:c.850-277del NP_066550.2:n.850-277del
NM_021072.4:c.850-277del MANE Select NP_066550.2:n.850-277del
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