Canonical Allele Identifier: CA559412234
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1206098712
gnomAD v2: 5-45645229-A-C
gnomAD v3: 5-45645127-A-C
gnomAD v4: 5-45645127-A-C

Genomic Alleles

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

Transcript Alleles

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