Canonical Allele Identifier: CA16044318
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375530
dbSNP Id: rs1057519548

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645575C>G , CM000667.2:g.45645575C>G GRCh38
NC_000005.9:g.45645677C>G , CM000667.1:g.45645677C>G GRCh37
NC_000005.8:g.45681434C>G NCBI36
NG_042183.1:g.55544G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.459G>C MANE Select ENSP00000307342.4:p.Met153Ile
ENST00000673735.1:c.459G>C ENSP00000501107.1:p.Met153Ile
ENST00000303230.5:c.459G>C ENSP00000307342.4:p.Met153Ile
ENST00000634658.1:c.459G>C ENSP00000489134.1:p.Met153Ile
NM_021072.3:c.459G>C NP_066550.2:p.Met153Ile
NM_021072.4:c.459G>C MANE Select NP_066550.2:p.Met153Ile