Canonical Allele Identifier: CA359704630
Gene: HCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036969
ClinVar RCV Id: RCV001340049
dbSNP Id: rs1051256215
MyVariant Identifiers: chr5:g.45461951C>G (hg19) chr5:g.45461849C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461849C>G , CM000667.2:g.45461849C>G GRCh38
NC_000005.9:g.45461951C>G , CM000667.1:g.45461951C>G GRCh37
NC_000005.8:g.45497708C>G NCBI36
NG_042183.1:g.239270G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.1008G>C MANE Select ENSP00000307342.4:p.Met336Ile
ENST00000637305.1:n.171G>C
ENST00000673735.1:c.1008G>C ENSP00000501107.1:p.Met336Ile
ENST00000303230.5:c.1008G>C ENSP00000307342.4:p.Met336Ile
NM_021072.3:c.1008G>C NP_066550.2:p.Met336Ile
NM_021072.4:c.1008G>C MANE Select NP_066550.2:p.Met336Ile
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