Canonical Allele Identifier: CA3259426
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1588010
ClinVar RCV Id: RCV002116915
dbSNP Id: rs752579418
ExAC: 5:45645500 C / A
gnomAD v2: 5-45645500-C-A
gnomAD v3: 5-45645398-C-A
gnomAD v4: 5-45645398-C-A
MyVariant Identifiers: chr5:g.45645500C>A (hg19) chr5:g.45645398C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645398C>A , CM000667.2:g.45645398C>A GRCh38
NC_000005.9:g.45645500C>A , CM000667.1:g.45645500C>A GRCh37
NC_000005.8:g.45681257C>A NCBI36
NG_042183.1:g.55721G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.636G>T MANE Select ENSP00000307342.4:p.Val212=
ENST00000673735.1:c.636G>T ENSP00000501107.1:p.Val212=
ENST00000303230.5:c.636G>T ENSP00000307342.4:p.Val212=
ENST00000634658.1:c.636G>T ENSP00000489134.1:p.Val212=
NM_021072.3:c.636G>T NP_066550.2:p.Val212=
NM_021072.4:c.636G>T MANE Select NP_066550.2:p.Val212=
Search 100 bp 5'
Search 100 bp 3'