Canonical Allele Identifier: CA559416293
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1251648859
gnomAD v2: 5-45462391-A-G
gnomAD v3: 5-45462289-A-G
gnomAD v4: 5-45462289-A-G
MyVariant Identifiers: chr5:g.45462391A>G (hg19) chr5:g.45462289A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462289A>G , CM000667.2:g.45462289A>G GRCh38
NC_000005.9:g.45462391A>G , CM000667.1:g.45462391A>G GRCh37
NC_000005.8:g.45498148A>G NCBI36
NG_042183.1:g.238830T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-282T>C MANE Select ENSP00000307342.4:n.850-282T>C
ENST00000637305.1:n.13-282T>C
ENST00000673735.1:c.850-282T>C ENSP00000501107.1:n.850-282T>C
ENST00000303230.5:c.850-282T>C ENSP00000307342.4:n.850-282T>C
NM_021072.3:c.850-282T>C NP_066550.2:n.850-282T>C
NM_021072.4:c.850-282T>C MANE Select NP_066550.2:n.850-282T>C
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