Canonical Allele Identifier: CA359707845
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380415
ClinVar RCV Id: RCV001892245
dbSNP Id: rs1561230606
gnomAD v4: 5-45645565-G-T
MyVariant Identifiers: chr5:g.45645667G>T (hg19) chr5:g.45645565G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645565G>T , CM000667.2:g.45645565G>T GRCh38
NC_000005.9:g.45645667G>T , CM000667.1:g.45645667G>T GRCh37
NC_000005.8:g.45681424G>T NCBI36
NG_042183.1:g.55554C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.469C>A MANE Select ENSP00000307342.4:p.Leu157Ile
ENST00000673735.1:c.469C>A ENSP00000501107.1:p.Leu157Ile
ENST00000303230.5:c.469C>A ENSP00000307342.4:p.Leu157Ile
ENST00000634658.1:c.469C>A ENSP00000489134.1:p.Leu157Ile
NM_021072.3:c.469C>A NP_066550.2:p.Leu157Ile
NM_021072.4:c.469C>A MANE Select NP_066550.2:p.Leu157Ile
Search 100 bp 5'
Search 100 bp 3'