Canonical Allele Identifier: CA359705041
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2833978
ClinVar RCV Id: RCV003754477
MyVariant Identifiers: chr5:g.45462078G>A (hg19) chr5:g.45461976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461976G>A , CM000667.2:g.45461976G>A GRCh38
NC_000005.9:g.45462078G>A , CM000667.1:g.45462078G>A GRCh37
NC_000005.8:g.45497835G>A NCBI36
NG_042183.1:g.239143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.881C>T MANE Select ENSP00000307342.4:p.Ala294Val
ENST00000637305.1:n.44C>T
ENST00000673735.1:c.881C>T ENSP00000501107.1:p.Ala294Val
ENST00000303230.5:c.881C>T ENSP00000307342.4:p.Ala294Val
NM_021072.3:c.881C>T NP_066550.2:p.Ala294Val
NM_021072.4:c.881C>T MANE Select NP_066550.2:p.Ala294Val
Search 100 bp 5'
Search 100 bp 3'