Canonical Allele Identifier: CA359704882
Gene: HCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461907A>C , CM000667.2:g.45461907A>C GRCh38
NC_000005.9:g.45462009A>C , CM000667.1:g.45462009A>C GRCh37
NC_000005.8:g.45497766A>C NCBI36
NG_042183.1:g.239212T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.950T>G MANE Select ENSP00000307342.4:p.Phe317Cys
ENST00000637305.1:n.113T>G
ENST00000673735.1:c.950T>G ENSP00000501107.1:p.Phe317Cys
ENST00000303230.5:c.950T>G ENSP00000307342.4:p.Phe317Cys
NM_021072.3:c.950T>G NP_066550.2:p.Phe317Cys
NM_021072.4:c.950T>G MANE Select NP_066550.2:p.Phe317Cys