Canonical Allele Identifier: CA118303579
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1300614
ClinVar RCV Id: RCV001732527
dbSNP Id: rs374836434
gnomAD v2: 5-45462394-T-TTATA
gnomAD v3: 5-45462292-T-TTATA
gnomAD v4: 5-45462292-T-TTATA
MyVariant Identifiers: chr5:g.45462394_45462395insTATA (hg19) chr5:g.45462292_45462293insTATA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462292_45462293insTATA , CM000667.2:g.45462292_45462293insTATA GRCh38
NC_000005.9:g.45462394_45462395insTATA , CM000667.1:g.45462394_45462395insTATA GRCh37
NC_000005.8:g.45498151_45498152insTATA NCBI36
NG_042183.1:g.238826_238827insTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-286_850-285insTATA MANE Select ENSP00000307342.4:n.850-286_850-285insTATA
ENST00000637305.1:n.13-286_13-285insTATA
ENST00000673735.1:c.850-286_850-285insTATA ENSP00000501107.1:n.850-286_850-285insTATA
ENST00000303230.5:c.850-286_850-285insTATA ENSP00000307342.4:n.850-286_850-285insTATA
NM_021072.3:c.850-286_850-285insTATA NP_066550.2:n.850-286_850-285insTATA
NM_021072.4:c.850-286_850-285insTATA MANE Select NP_066550.2:n.850-286_850-285insTATA
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Search 100 bp 3'