Canonical Allele Identifier: CA359705238
Community Standard Title: NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly)
Gene: HCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45396538G>C , CM000667.2:g.45396538G>C GRCh38
NC_000005.9:g.45396640G>C , CM000667.1:g.45396640G>C GRCh37
NC_000005.8:g.45432397G>C NCBI36
NG_042183.1:g.304581C>G

Transcript Alleles

HGVS Amino-acid Change
NM_021072.4:c.1184C>G MANE Select NP_066550.2:p.Ala395Gly
ENST00000303230.6:c.1184C>G MANE Select ENSP00000307342.4:p.Ala395Gly
NM_021072.3:c.1184C>G NP_066550.2:p.Ala395Gly
ENST00000303230.5:c.1184C>G ENSP00000307342.4:p.Ala395Gly
ENST00000637305.1:n.347C>G
ENST00000673735.1:c.1184C>G ENSP00000501107.1:p.Ala395Gly