Canonical Allele Identifier: CA444257868
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1434192474
gnomAD v2: 5-45462007-A-G
gnomAD v4: 5-45461905-A-G
MyVariant Identifiers: chr5:g.45462007A>G (hg19) chr5:g.45461905A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45461905A>G , CM000667.2:g.45461905A>G GRCh38
NC_000005.9:g.45462007A>G , CM000667.1:g.45462007A>G GRCh37
NC_000005.8:g.45497764A>G NCBI36
NG_042183.1:g.239214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.952T>C MANE Select ENSP00000307342.4:p.Leu318=
ENST00000637305.1:n.115T>C
ENST00000673735.1:c.952T>C ENSP00000501107.1:p.Leu318=
ENST00000303230.5:c.952T>C ENSP00000307342.4:p.Leu318=
NM_021072.3:c.952T>C NP_066550.2:p.Leu318=
NM_021072.4:c.952T>C MANE Select NP_066550.2:p.Leu318=
Search 100 bp 5'
Search 100 bp 3'