Canonical Allele Identifier: CA359707446
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1439791679
gnomAD v2: 5-45645491-C-A
COSMIC: COSM6171251
MyVariant Identifiers: chr5:g.45645491C>A (hg19) chr5:g.45645389C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645389C>A , CM000667.2:g.45645389C>A GRCh38
NC_000005.9:g.45645491C>A , CM000667.1:g.45645491C>A GRCh37
NC_000005.8:g.45681248C>A NCBI36
NG_042183.1:g.55730G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.645G>T MANE Select ENSP00000307342.4:p.Met215Ile
ENST00000673735.1:c.645G>T ENSP00000501107.1:p.Met215Ile
ENST00000303230.5:c.645G>T ENSP00000307342.4:p.Met215Ile
ENST00000634658.1:c.645G>T ENSP00000489134.1:p.Met215Ile
NM_021072.3:c.645G>T NP_066550.2:p.Met215Ile
NM_021072.4:c.645G>T MANE Select NP_066550.2:p.Met215Ile
Search 100 bp 5'
Search 100 bp 3'