Canonical Allele Identifier: CA359707514
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645420-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645420T>A , CM000667.2:g.45645420T>A GRCh38
NC_000005.9:g.45645522T>A , CM000667.1:g.45645522T>A GRCh37
NC_000005.8:g.45681279T>A NCBI36
NG_042183.1:g.55699A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.614A>T MANE Select ENSP00000307342.4:p.Glu205Val
ENST00000673735.1:c.614A>T ENSP00000501107.1:p.Glu205Val
ENST00000303230.5:c.614A>T ENSP00000307342.4:p.Glu205Val
ENST00000634658.1:c.614A>T ENSP00000489134.1:p.Glu205Val
NM_021072.3:c.614A>T NP_066550.2:p.Glu205Val
NM_021072.4:c.614A>T MANE Select NP_066550.2:p.Glu205Val