Canonical Allele Identifier: CA118324603
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1023677355
gnomAD v4: 5-45645142-A-G
MyVariant Identifiers: chr5:g.45645244A>G (hg19) chr5:g.45645142A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645142A>G , CM000667.2:g.45645142A>G GRCh38
NC_000005.9:g.45645244A>G , CM000667.1:g.45645244A>G GRCh37
NC_000005.8:g.45681001A>G NCBI36
NG_042183.1:g.55977T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.849+43T>C MANE Select ENSP00000307342.4:n.849+43T>C
ENST00000637256.1:n.77+43T>C
ENST00000673735.1:c.849+43T>C ENSP00000501107.1:n.849+43T>C
ENST00000303230.5:c.849+43T>C ENSP00000307342.4:n.849+43T>C
ENST00000634658.1:c.*4T>C ENSP00000489134.1:n.*4T>C
NM_021072.3:c.849+43T>C NP_066550.2:n.849+43T>C
NM_021072.4:c.849+43T>C MANE Select NP_066550.2:n.849+43T>C
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