Canonical Allele Identifier: CA559416291
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1209649818
gnomAD v2: 5-45462378-G-T
gnomAD v3: 5-45462276-G-T
gnomAD v4: 5-45462276-G-T
MyVariant Identifiers: chr5:g.45462378G>T (hg19) chr5:g.45462276G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462276G>T , CM000667.2:g.45462276G>T GRCh38
NC_000005.9:g.45462378G>T , CM000667.1:g.45462378G>T GRCh37
NC_000005.8:g.45498135G>T NCBI36
NG_042183.1:g.238843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-269C>A MANE Select ENSP00000307342.4:n.850-269C>A
ENST00000637305.1:n.13-269C>A
ENST00000673735.1:c.850-269C>A ENSP00000501107.1:n.850-269C>A
ENST00000303230.5:c.850-269C>A ENSP00000307342.4:n.850-269C>A
NM_021072.3:c.850-269C>A NP_066550.2:n.850-269C>A
NM_021072.4:c.850-269C>A MANE Select NP_066550.2:n.850-269C>A
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