Canonical Allele Identifier: CA3259417
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1615049
ClinVar RCV Id: RCV002079070
dbSNP Id: rs775887697
ExAC: 5:45645341 G / T
gnomAD v2: 5-45645341-G-T
gnomAD v3: 5-45645239-G-T
gnomAD v4: 5-45645239-G-T
MyVariant Identifiers: chr5:g.45645341G>T (hg19) chr5:g.45645239G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645239G>T , CM000667.2:g.45645239G>T GRCh38
NC_000005.9:g.45645341G>T , CM000667.1:g.45645341G>T GRCh37
NC_000005.8:g.45681098G>T NCBI36
NG_042183.1:g.55880C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.795C>A MANE Select ENSP00000307342.4:p.Leu265=
ENST00000637256.1:n.23C>A
ENST00000673735.1:c.795C>A ENSP00000501107.1:p.Leu265=
ENST00000303230.5:c.795C>A ENSP00000307342.4:p.Leu265=
ENST00000634658.1:c.795C>A ENSP00000489134.1:p.Leu265=
NM_021072.3:c.795C>A NP_066550.2:p.Leu265=
NM_021072.4:c.795C>A MANE Select NP_066550.2:p.Leu265=
Search 100 bp 5'
Search 100 bp 3'