Canonical Allele Identifier: CA118324599
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1012926425
gnomAD v2: 5-45645223-T-C
gnomAD v3: 5-45645121-T-C
gnomAD v4: 5-45645121-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645121T>C , CM000667.2:g.45645121T>C GRCh38
NC_000005.9:g.45645223T>C , CM000667.1:g.45645223T>C GRCh37
NC_000005.8:g.45680980T>C NCBI36
NG_042183.1:g.55998A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.849+64A>G MANE Select ENSP00000307342.4:n.849+64A>G
ENST00000637256.1:n.77+64A>G
ENST00000673735.1:c.849+64A>G ENSP00000501107.1:n.849+64A>G
ENST00000303230.5:c.849+64A>G ENSP00000307342.4:n.849+64A>G
ENST00000634658.1:c.*25A>G ENSP00000489134.1:n.*25A>G
NM_021072.3:c.849+64A>G NP_066550.2:n.849+64A>G
NM_021072.4:c.849+64A>G MANE Select NP_066550.2:n.849+64A>G