Canonical Allele Identifier: CA16604906
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384546
dbSNP Id: rs1057521989

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461944T>A , CM000667.2:g.45461944T>A GRCh38
NC_000005.9:g.45462046T>A , CM000667.1:g.45462046T>A GRCh37
NC_000005.8:g.45497803T>A NCBI36
NG_042183.1:g.239175A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.913A>T MANE Select ENSP00000307342.4:p.Met305Leu
ENST00000637305.1:n.76A>T
ENST00000673735.1:c.913A>T ENSP00000501107.1:p.Met305Leu
ENST00000303230.5:c.913A>T ENSP00000307342.4:p.Met305Leu
NM_021072.3:c.913A>T NP_066550.2:p.Met305Leu
NM_021072.4:c.913A>T MANE Select NP_066550.2:p.Met305Leu