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ClinGen Allele Registry
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Canonical Allele Identifier:
CA359705262
Community Standard Title: NM_021072.4(HCN1):c.1172G>T (p.Gly391Val)
Gene: HCN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.45396550C>A , CM000667.2:g.45396550C>A
GRCh38
NC_000005.9:g.45396652C>A , CM000667.1:g.45396652C>A
GRCh37
NC_000005.8:g.45432409C>A
NCBI36
NG_042183.1:g.304569G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_021072.4:c.1172G>T
MANE Select
NP_066550.2:p.Gly391Val
ENST00000303230.6:c.1172G>T
MANE Select
ENSP00000307342.4:p.Gly391Val
NM_021072.3:c.1172G>T
NP_066550.2:p.Gly391Val
ENST00000303230.5:c.1172G>T
ENSP00000307342.4:p.Gly391Val
ENST00000637305.1:n.335G>T
ENST00000673735.1:c.1172G>T
ENSP00000501107.1:p.Gly391Val
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