Canonical Allele Identifier: CA2673782177
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645122-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645122G>A , CM000667.2:g.45645122G>A GRCh38
NC_000005.9:g.45645224G>A , CM000667.1:g.45645224G>A GRCh37
NC_000005.8:g.45680981G>A NCBI36
NG_042183.1:g.55997C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.849+63C>T MANE Select ENSP00000307342.4:n.849+63C>T
ENST00000637256.1:n.77+63C>T
ENST00000673735.1:c.849+63C>T ENSP00000501107.1:n.849+63C>T
ENST00000303230.5:c.849+63C>T ENSP00000307342.4:n.849+63C>T
ENST00000634658.1:c.*24C>T ENSP00000489134.1:n.*24C>T
NM_021072.3:c.849+63C>T NP_066550.2:n.849+63C>T
NM_021072.4:c.849+63C>T MANE Select NP_066550.2:n.849+63C>T
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