Canonical Allele Identifier: CA444401500
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645560-G-A
COSMIC: COSM3920133
MyVariant Identifiers: chr5:g.45645662G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645560G>A , CM000667.2:g.45645560G>A GRCh38
NC_000005.9:g.45645662G>A , CM000667.1:g.45645662G>A GRCh37
NC_000005.8:g.45681419G>A NCBI36
NG_042183.1:g.55559C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.474C>T MANE Select ENSP00000307342.4:p.Val158=
ENST00000673735.1:c.474C>T ENSP00000501107.1:p.Val158=
ENST00000303230.5:c.474C>T ENSP00000307342.4:p.Val158=
ENST00000634658.1:c.474C>T ENSP00000489134.1:p.Val158=
NM_021072.3:c.474C>T NP_066550.2:p.Val158=
NM_021072.4:c.474C>T MANE Select NP_066550.2:p.Val158=
Search 100 bp 5'
Search 100 bp 3'