Canonical Allele Identifier: CA359704839
Gene: HCN1 HGNC NCBI

Linked Data

COSMIC: COSM363398
MyVariant Identifiers: chr5:g.45461992G>C (hg19) chr5:g.45461890G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461890G>C , CM000667.2:g.45461890G>C GRCh38
NC_000005.9:g.45461992G>C , CM000667.1:g.45461992G>C GRCh37
NC_000005.8:g.45497749G>C NCBI36
NG_042183.1:g.239229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.967C>G MANE Select ENSP00000307342.4:p.Gln323Glu
ENST00000637305.1:n.130C>G
ENST00000673735.1:c.967C>G ENSP00000501107.1:p.Gln323Glu
ENST00000303230.5:c.967C>G ENSP00000307342.4:p.Gln323Glu
NM_021072.3:c.967C>G NP_066550.2:p.Gln323Glu
NM_021072.4:c.967C>G MANE Select NP_066550.2:p.Gln323Glu
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