Canonical Allele Identifier: CA359707497
Gene: HCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645412G>T , CM000667.2:g.45645412G>T GRCh38
NC_000005.9:g.45645514G>T , CM000667.1:g.45645514G>T GRCh37
NC_000005.8:g.45681271G>T NCBI36
NG_042183.1:g.55707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.622C>A MANE Select ENSP00000307342.4:p.Leu208Met
ENST00000673735.1:c.622C>A ENSP00000501107.1:p.Leu208Met
ENST00000303230.5:c.622C>A ENSP00000307342.4:p.Leu208Met
ENST00000634658.1:c.622C>A ENSP00000489134.1:p.Leu208Met
NM_021072.3:c.622C>A NP_066550.2:p.Leu208Met
NM_021072.4:c.622C>A MANE Select NP_066550.2:p.Leu208Met