Canonical Allele Identifier: CA444401734
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1745529595
gnomAD v4: 5-45645344-G-A
MyVariant Identifiers: chr5:g.45645446G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645344G>A , CM000667.2:g.45645344G>A GRCh38
NC_000005.9:g.45645446G>A , CM000667.1:g.45645446G>A GRCh37
NC_000005.8:g.45681203G>A NCBI36
NG_042183.1:g.55775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.690C>T MANE Select ENSP00000307342.4:p.Ile230=
ENST00000673735.1:c.690C>T ENSP00000501107.1:p.Ile230=
ENST00000303230.5:c.690C>T ENSP00000307342.4:p.Ile230=
ENST00000634658.1:c.690C>T ENSP00000489134.1:p.Ile230=
NM_021072.3:c.690C>T NP_066550.2:p.Ile230=
NM_021072.4:c.690C>T MANE Select NP_066550.2:p.Ile230=
Search 100 bp 5'
Search 100 bp 3'