Canonical Allele Identifier: CA2673782182
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645128-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645128C>A , CM000667.2:g.45645128C>A GRCh38
NC_000005.9:g.45645230C>A , CM000667.1:g.45645230C>A GRCh37
NC_000005.8:g.45680987C>A NCBI36
NG_042183.1:g.55991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.849+57G>T MANE Select ENSP00000307342.4:n.849+57G>T
ENST00000637256.1:n.77+57G>T
ENST00000673735.1:c.849+57G>T ENSP00000501107.1:n.849+57G>T
ENST00000303230.5:c.849+57G>T ENSP00000307342.4:n.849+57G>T
ENST00000634658.1:c.*18G>T ENSP00000489134.1:n.*18G>T
NM_021072.3:c.849+57G>T NP_066550.2:n.849+57G>T
NM_021072.4:c.849+57G>T MANE Select NP_066550.2:n.849+57G>T
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