Canonical Allele Identifier: CA163271
Gene: HCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.45396521C>G
GRCh37 chr5:g.45396623C>G
Revel Score:
ENST00000303230 (MANE Select) 0.977
ClinVar RCV:
RCV000128458
RCV001169921
ClinVar Variation:
139571
dbSNP:
587777491
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45396521C>G , CM000667.2:g.45396521C>G GRCh38
NC_000005.9:g.45396623C>G , CM000667.1:g.45396623C>G GRCh37
NC_000005.8:g.45432380C>G NCBI36
NG_042183.1:g.304598G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.1201G>C MANE Select ENSP00000307342.4:p.Asp401His
ENST00000637305.1:n.364G>C
ENST00000673735.1:c.1201G>C ENSP00000501107.1:p.Asp401His
ENST00000303230.5:c.1201G>C ENSP00000307342.4:p.Asp401His
NM_021072.3:c.1201G>C NP_066550.2:p.Asp401His
NM_021072.4:c.1201G>C MANE Select NP_066550.2:p.Asp401His
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