Canonical Allele Identifier: CA359704613
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1712221
ClinVar RCV Id: RCV002293939
MyVariant Identifiers: chr5:g.45461947C>A (hg19) chr5:g.45461845C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461845C>A , CM000667.2:g.45461845C>A GRCh38
NC_000005.9:g.45461947C>A , CM000667.1:g.45461947C>A GRCh37
NC_000005.8:g.45497704C>A NCBI36
NG_042183.1:g.239274G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.1011+1G>T MANE Select ENSP00000307342.4:n.1011+1G>T
ENST00000637305.1:n.174+1G>T
ENST00000673735.1:c.1011+1G>T ENSP00000501107.1:n.1011+1G>T
ENST00000303230.5:c.1011+1G>T ENSP00000307342.4:n.1011+1G>T
NM_021072.3:c.1011+1G>T NP_066550.2:n.1011+1G>T
NM_021072.4:c.1011+1G>T MANE Select NP_066550.2:n.1011+1G>T
Search 100 bp 5'
Search 100 bp 3'