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ClinGen Allele Registry
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Canonical Allele Identifier:
CA16044317
Community Standard Title: NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
Gene: HCN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.45396550C>T , CM000667.2:g.45396550C>T
GRCh38
NC_000005.9:g.45396652C>T , CM000667.1:g.45396652C>T
GRCh37
NC_000005.8:g.45432409C>T
NCBI36
NG_042183.1:g.304569G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_021072.4:c.1172G>A
MANE Select
NP_066550.2:p.Gly391Asp
ENST00000303230.6:c.1172G>A
MANE Select
ENSP00000307342.4:p.Gly391Asp
NM_021072.3:c.1172G>A
NP_066550.2:p.Gly391Asp
ENST00000303230.5:c.1172G>A
ENSP00000307342.4:p.Gly391Asp
ENST00000637305.1:n.335G>A
ENST00000673735.1:c.1172G>A
ENSP00000501107.1:p.Gly391Asp
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