Canonical Allele Identifier: CA3259389
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs373350950
ExAC: 5:45462005 T / C
gnomAD v2: 5-45462005-T-C
gnomAD v4: 5-45461903-T-C
MyVariant Identifiers: chr5:g.45462005T>C (hg19) chr5:g.45461903T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461903T>C , CM000667.2:g.45461903T>C GRCh38
NC_000005.9:g.45462005T>C , CM000667.1:g.45462005T>C GRCh37
NC_000005.8:g.45497762T>C NCBI36
NG_042183.1:g.239216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.954A>G MANE Select ENSP00000307342.4:p.Leu318=
ENST00000637305.1:n.117A>G
ENST00000673735.1:c.954A>G ENSP00000501107.1:p.Leu318=
ENST00000303230.5:c.954A>G ENSP00000307342.4:p.Leu318=
NM_021072.3:c.954A>G NP_066550.2:p.Leu318=
NM_021072.4:c.954A>G MANE Select NP_066550.2:p.Leu318=
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