Canonical Allele Identifier: CA359707916
Gene: HCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645595A>C , CM000667.2:g.45645595A>C GRCh38
NC_000005.9:g.45645697A>C , CM000667.1:g.45645697A>C GRCh37
NC_000005.8:g.45681454A>C NCBI36
NG_042183.1:g.55524T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.439T>G MANE Select ENSP00000307342.4:p.Leu147Val
ENST00000673735.1:c.439T>G ENSP00000501107.1:p.Leu147Val
ENST00000303230.5:c.439T>G ENSP00000307342.4:p.Leu147Val
ENST00000634658.1:c.439T>G ENSP00000489134.1:p.Leu147Val
NM_021072.3:c.439T>G NP_066550.2:p.Leu147Val
NM_021072.4:c.439T>G MANE Select NP_066550.2:p.Leu147Val