Canonical Allele Identifier: CA359707814
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1237420066
gnomAD v2: 5-45645652-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645550C>A , CM000667.2:g.45645550C>A GRCh38
NC_000005.9:g.45645652C>A , CM000667.1:g.45645652C>A GRCh37
NC_000005.8:g.45681409C>A NCBI36
NG_042183.1:g.55569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.484G>T MANE Select ENSP00000307342.4:p.Val162Phe
ENST00000673735.1:c.484G>T ENSP00000501107.1:p.Val162Phe
ENST00000303230.5:c.484G>T ENSP00000307342.4:p.Val162Phe
ENST00000634658.1:c.484G>T ENSP00000489134.1:p.Val162Phe
NM_021072.3:c.484G>T NP_066550.2:p.Val162Phe
NM_021072.4:c.484G>T MANE Select NP_066550.2:p.Val162Phe