Canonical Allele Identifier: CA359707423
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1176738324
gnomAD v2: 5-45645483-A-C
gnomAD v4: 5-45645381-A-C
MyVariant Identifiers: chr5:g.45645483A>C (hg19) chr5:g.45645381A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645381A>C , CM000667.2:g.45645381A>C GRCh38
NC_000005.9:g.45645483A>C , CM000667.1:g.45645483A>C GRCh37
NC_000005.8:g.45681240A>C NCBI36
NG_042183.1:g.55738T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.653T>G MANE Select ENSP00000307342.4:p.Leu218Ter
ENST00000673735.1:c.653T>G ENSP00000501107.1:p.Leu218Ter
ENST00000303230.5:c.653T>G ENSP00000307342.4:p.Leu218Ter
ENST00000634658.1:c.653T>G ENSP00000489134.1:p.Leu218Ter
NM_021072.3:c.653T>G NP_066550.2:p.Leu218Ter
NM_021072.4:c.653T>G MANE Select NP_066550.2:p.Leu218Ter
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