Canonical Allele Identifier: CA444257924
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1367657574
gnomAD v2: 5-45462029-G-A
gnomAD v4: 5-45461927-G-A
COSMIC: COSM738641
MyVariant Identifiers: chr5:g.45462029G>A (hg19) chr5:g.45461927G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461927G>A , CM000667.2:g.45461927G>A GRCh38
NC_000005.9:g.45462029G>A , CM000667.1:g.45462029G>A GRCh37
NC_000005.8:g.45497786G>A NCBI36
NG_042183.1:g.239192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.930C>T MANE Select ENSP00000307342.4:p.His310=
ENST00000637305.1:n.93C>T
ENST00000673735.1:c.930C>T ENSP00000501107.1:p.His310=
ENST00000303230.5:c.930C>T ENSP00000307342.4:p.His310=
NM_021072.3:c.930C>T NP_066550.2:p.His310=
NM_021072.4:c.930C>T MANE Select NP_066550.2:p.His310=
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