Canonical Allele Identifier: CA3259423
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1095273
ClinVar RCV Id: RCV001416083
dbSNP Id: rs370083488
ExAC: 5:45645434 A / G
gnomAD v2: 5-45645434-A-G
gnomAD v3: 5-45645332-A-G
gnomAD v4: 5-45645332-A-G
MyVariant Identifiers: chr5:g.45645434A>G (hg19) chr5:g.45645332A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645332A>G , CM000667.2:g.45645332A>G GRCh38
NC_000005.9:g.45645434A>G , CM000667.1:g.45645434A>G GRCh37
NC_000005.8:g.45681191A>G NCBI36
NG_042183.1:g.55787T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.702T>C MANE Select ENSP00000307342.4:p.Tyr234=
ENST00000673735.1:c.702T>C ENSP00000501107.1:p.Tyr234=
ENST00000303230.5:c.702T>C ENSP00000307342.4:p.Tyr234=
ENST00000634658.1:c.702T>C ENSP00000489134.1:p.Tyr234=
NM_021072.3:c.702T>C NP_066550.2:p.Tyr234=
NM_021072.4:c.702T>C MANE Select NP_066550.2:p.Tyr234=
Search 100 bp 5'
Search 100 bp 3'