Canonical Allele Identifier: CA118324608
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305309
ClinVar RCV Id: RCV001768516 RCV002361019 RCV002540246
dbSNP Id: rs975527828
gnomAD v4: 5-45645391-T-C
COSMIC: COSM3343059
MyVariant Identifiers: chr5:g.45645493T>C (hg19) chr5:g.45645391T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645391T>C , CM000667.2:g.45645391T>C GRCh38
NC_000005.9:g.45645493T>C , CM000667.1:g.45645493T>C GRCh37
NC_000005.8:g.45681250T>C NCBI36
NG_042183.1:g.55728A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.643A>G MANE Select ENSP00000307342.4:p.Met215Val
ENST00000673735.1:c.643A>G ENSP00000501107.1:p.Met215Val
ENST00000303230.5:c.643A>G ENSP00000307342.4:p.Met215Val
ENST00000634658.1:c.643A>G ENSP00000489134.1:p.Met215Val
NM_021072.3:c.643A>G NP_066550.2:p.Met215Val
NM_021072.4:c.643A>G MANE Select NP_066550.2:p.Met215Val
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