Canonical Allele Identifier: CA2673782181
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645127-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645127A>G , CM000667.2:g.45645127A>G GRCh38
NC_000005.9:g.45645229A>G , CM000667.1:g.45645229A>G GRCh37
NC_000005.8:g.45680986A>G NCBI36
NG_042183.1:g.55992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.849+58T>C MANE Select ENSP00000307342.4:n.849+58T>C
ENST00000637256.1:n.77+58T>C
ENST00000673735.1:c.849+58T>C ENSP00000501107.1:n.849+58T>C
ENST00000303230.5:c.849+58T>C ENSP00000307342.4:n.849+58T>C
ENST00000634658.1:c.*19T>C ENSP00000489134.1:n.*19T>C
NM_021072.3:c.849+58T>C NP_066550.2:n.849+58T>C
NM_021072.4:c.849+58T>C MANE Select NP_066550.2:n.849+58T>C