Canonical Allele Identifier: CA2673782178
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645122-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645122G>T , CM000667.2:g.45645122G>T GRCh38
NC_000005.9:g.45645224G>T , CM000667.1:g.45645224G>T GRCh37
NC_000005.8:g.45680981G>T NCBI36
NG_042183.1:g.55997C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.849+63C>A MANE Select ENSP00000307342.4:n.849+63C>A
ENST00000637256.1:n.77+63C>A
ENST00000673735.1:c.849+63C>A ENSP00000501107.1:n.849+63C>A
ENST00000303230.5:c.849+63C>A ENSP00000307342.4:n.849+63C>A
ENST00000634658.1:c.*24C>A ENSP00000489134.1:n.*24C>A
NM_021072.3:c.849+63C>A NP_066550.2:n.849+63C>A
NM_021072.4:c.849+63C>A MANE Select NP_066550.2:n.849+63C>A