Canonical Allele Identifier: CA444258162
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 530567
ClinVar RCV Id: RCV000636481
dbSNP Id: rs1385704339
gnomAD v3: 5-45461936-G-A
gnomAD v4: 5-45461936-G-A
MyVariant Identifiers: chr5:g.45462038G>A (hg19) chr5:g.45461936G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461936G>A , CM000667.2:g.45461936G>A GRCh38
NC_000005.9:g.45462038G>A , CM000667.1:g.45462038G>A GRCh37
NC_000005.8:g.45497795G>A NCBI36
NG_042183.1:g.239183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.921C>T MANE Select ENSP00000307342.4:p.Leu307=
ENST00000637305.1:n.84C>T
ENST00000673735.1:c.921C>T ENSP00000501107.1:p.Leu307=
ENST00000303230.5:c.921C>T ENSP00000307342.4:p.Leu307=
NM_021072.3:c.921C>T NP_066550.2:p.Leu307=
NM_021072.4:c.921C>T MANE Select NP_066550.2:p.Leu307=
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