Canonical Allele Identifier: CA2673782183
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645132-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645132C>T , CM000667.2:g.45645132C>T GRCh38
NC_000005.9:g.45645234C>T , CM000667.1:g.45645234C>T GRCh37
NC_000005.8:g.45680991C>T NCBI36
NG_042183.1:g.55987G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.849+53G>A MANE Select ENSP00000307342.4:n.849+53G>A
ENST00000637256.1:n.77+53G>A
ENST00000673735.1:c.849+53G>A ENSP00000501107.1:n.849+53G>A
ENST00000303230.5:c.849+53G>A ENSP00000307342.4:n.849+53G>A
ENST00000634658.1:c.*14G>A ENSP00000489134.1:n.*14G>A
NM_021072.3:c.849+53G>A NP_066550.2:n.849+53G>A
NM_021072.4:c.849+53G>A MANE Select NP_066550.2:n.849+53G>A
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