Canonical Allele Identifier: CA559416288
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1247448587
gnomAD v2: 5-45462325-G-C
gnomAD v3: 5-45462223-G-C
gnomAD v4: 5-45462223-G-C
MyVariant Identifiers: chr5:g.45462325G>C (hg19) chr5:g.45462223G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45462223G>C , CM000667.2:g.45462223G>C GRCh38
NC_000005.9:g.45462325G>C , CM000667.1:g.45462325G>C GRCh37
NC_000005.8:g.45498082G>C NCBI36
NG_042183.1:g.238896C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.850-216C>G MANE Select ENSP00000307342.4:n.850-216C>G
ENST00000637305.1:n.13-216C>G
ENST00000673735.1:c.850-216C>G ENSP00000501107.1:n.850-216C>G
ENST00000303230.5:c.850-216C>G ENSP00000307342.4:n.850-216C>G
NM_021072.3:c.850-216C>G NP_066550.2:n.850-216C>G
NM_021072.4:c.850-216C>G MANE Select NP_066550.2:n.850-216C>G
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