Canonical Allele Identifier: CA359707359
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1209237249
gnomAD v2: 5-45645457-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645355T>C , CM000667.2:g.45645355T>C GRCh38
NC_000005.9:g.45645457T>C , CM000667.1:g.45645457T>C GRCh37
NC_000005.8:g.45681214T>C NCBI36
NG_042183.1:g.55764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.679A>G MANE Select ENSP00000307342.4:p.Ile227Val
ENST00000673735.1:c.679A>G ENSP00000501107.1:p.Ile227Val
ENST00000303230.5:c.679A>G ENSP00000307342.4:p.Ile227Val
ENST00000634658.1:c.679A>G ENSP00000489134.1:p.Ile227Val
NM_021072.3:c.679A>G NP_066550.2:p.Ile227Val
NM_021072.4:c.679A>G MANE Select NP_066550.2:p.Ile227Val