Canonical Allele Identifier: CA1075706129
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1741171978
gnomAD v3: 5-45462014-A-G
gnomAD v4: 5-45462014-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462014A>G , CM000667.2:g.45462014A>G GRCh38
NC_000005.9:g.45462116A>G , CM000667.1:g.45462116A>G GRCh37
NC_000005.8:g.45497873A>G NCBI36
NG_042183.1:g.239105T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-7T>C MANE Select ENSP00000307342.4:n.850-7T>C
ENST00000637305.1:n.13-7T>C
ENST00000673735.1:c.850-7T>C ENSP00000501107.1:n.850-7T>C
ENST00000303230.5:c.850-7T>C ENSP00000307342.4:n.850-7T>C
NM_021072.3:c.850-7T>C NP_066550.2:n.850-7T>C
NM_021072.4:c.850-7T>C MANE Select NP_066550.2:n.850-7T>C
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