Canonical Allele Identifier: CA16611854
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404101
ClinVar RCV Id: RCV000469716
dbSNP Id: rs1060500097
MyVariant Identifiers: chr5:g.45645578G>C (hg19) chr5:g.45645476G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645476G>C , CM000667.2:g.45645476G>C GRCh38
NC_000005.9:g.45645578G>C , CM000667.1:g.45645578G>C GRCh37
NC_000005.8:g.45681335G>C NCBI36
NG_042183.1:g.55643C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.558C>G MANE Select ENSP00000307342.4:p.Phe186Leu
ENST00000673735.1:c.558C>G ENSP00000501107.1:p.Phe186Leu
ENST00000303230.5:c.558C>G ENSP00000307342.4:p.Phe186Leu
ENST00000634658.1:c.558C>G ENSP00000489134.1:p.Phe186Leu
NM_021072.3:c.558C>G NP_066550.2:p.Phe186Leu
NM_021072.4:c.558C>G MANE Select NP_066550.2:p.Phe186Leu
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