Canonical Allele Identifier: CA444401770
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156936
ClinVar RCV Id: RCV003077836
dbSNP Id: rs1462630974
gnomAD v2: 5-45645464-A-G
gnomAD v4: 5-45645362-A-G
MyVariant Identifiers: chr5:g.45645464A>G (hg19) chr5:g.45645362A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645362A>G , CM000667.2:g.45645362A>G GRCh38
NC_000005.9:g.45645464A>G , CM000667.1:g.45645464A>G GRCh37
NC_000005.8:g.45681221A>G NCBI36
NG_042183.1:g.55757T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.672T>C MANE Select ENSP00000307342.4:p.Val224=
ENST00000673735.1:c.672T>C ENSP00000501107.1:p.Val224=
ENST00000303230.5:c.672T>C ENSP00000307342.4:p.Val224=
ENST00000634658.1:c.672T>C ENSP00000489134.1:p.Val224=
NM_021072.3:c.672T>C NP_066550.2:p.Val224=
NM_021072.4:c.672T>C MANE Select NP_066550.2:p.Val224=
Search 100 bp 5'
Search 100 bp 3'