Canonical Allele Identifier: CA359705109
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1191518802
gnomAD v2: 5-45462105-A-T
gnomAD v4: 5-45462003-A-T
MyVariant Identifiers: chr5:g.45462105A>T (hg19) chr5:g.45462003A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462003A>T , CM000667.2:g.45462003A>T GRCh38
NC_000005.9:g.45462105A>T , CM000667.1:g.45462105A>T GRCh37
NC_000005.8:g.45497862A>T NCBI36
NG_042183.1:g.239116T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.854T>A MANE Select ENSP00000307342.4:p.Phe285Tyr
ENST00000637305.1:n.17T>A
ENST00000673735.1:c.854T>A ENSP00000501107.1:p.Phe285Tyr
ENST00000303230.5:c.854T>A ENSP00000307342.4:p.Phe285Tyr
NM_021072.3:c.854T>A NP_066550.2:p.Phe285Tyr
NM_021072.4:c.854T>A MANE Select NP_066550.2:p.Phe285Tyr
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