Canonical Allele Identifier: CA359705064
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1320495749
gnomAD v2: 5-45462088-G-A
gnomAD v4: 5-45461986-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461986G>A , CM000667.2:g.45461986G>A GRCh38
NC_000005.9:g.45462088G>A , CM000667.1:g.45462088G>A GRCh37
NC_000005.8:g.45497845G>A NCBI36
NG_042183.1:g.239133C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.871C>T MANE Select ENSP00000307342.4:p.Leu291Phe
ENST00000637305.1:n.34C>T
ENST00000673735.1:c.871C>T ENSP00000501107.1:p.Leu291Phe
ENST00000303230.5:c.871C>T ENSP00000307342.4:p.Leu291Phe
NM_021072.3:c.871C>T NP_066550.2:p.Leu291Phe
NM_021072.4:c.871C>T MANE Select NP_066550.2:p.Leu291Phe