Canonical Allele Identifier: CA3259434
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs776001672
gnomAD v2: 5-45645593-T-C
gnomAD v4: 5-45645491-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645491T>C , CM000667.2:g.45645491T>C GRCh38
NC_000005.9:g.45645593T>C , CM000667.1:g.45645593T>C GRCh37
NC_000005.8:g.45681350T>C NCBI36
NG_042183.1:g.55628A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.543A>G MANE Select ENSP00000307342.4:p.Ala181=
ENST00000673735.1:c.543A>G ENSP00000501107.1:p.Ala181=
ENST00000303230.5:c.543A>G ENSP00000307342.4:p.Ala181=
ENST00000634658.1:c.543A>G ENSP00000489134.1:p.Ala181=
NM_021072.3:c.543A>G NP_066550.2:p.Ala181=
NM_021072.4:c.543A>G MANE Select NP_066550.2:p.Ala181=