Canonical Allele Identifier: CA359707760
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2702481
ClinVar RCV Id: RCV003589735
gnomAD v4: 5-45645526-G-T
MyVariant Identifiers: chr5:g.45645628G>T (hg19) chr5:g.45645526G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645526G>T , CM000667.2:g.45645526G>T GRCh38
NC_000005.9:g.45645628G>T , CM000667.1:g.45645628G>T GRCh37
NC_000005.8:g.45681385G>T NCBI36
NG_042183.1:g.55593C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.508C>A MANE Select ENSP00000307342.4:p.Gln170Lys
ENST00000673735.1:c.508C>A ENSP00000501107.1:p.Gln170Lys
ENST00000303230.5:c.508C>A ENSP00000307342.4:p.Gln170Lys
ENST00000634658.1:c.508C>A ENSP00000489134.1:p.Gln170Lys
NM_021072.3:c.508C>A NP_066550.2:p.Gln170Lys
NM_021072.4:c.508C>A MANE Select NP_066550.2:p.Gln170Lys
Search 100 bp 5'
Search 100 bp 3'