Canonical Allele Identifier: CA118324614
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1051987854
gnomAD v2: 5-45645642-G-A
MyVariant Identifiers: chr5:g.45645642G>A (hg19) chr5:g.45645540G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645540G>A , CM000667.2:g.45645540G>A GRCh38
NC_000005.9:g.45645642G>A , CM000667.1:g.45645642G>A GRCh37
NC_000005.8:g.45681399G>A NCBI36
NG_042183.1:g.55579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.494C>T MANE Select ENSP00000307342.4:p.Thr165Ile
ENST00000673735.1:c.494C>T ENSP00000501107.1:p.Thr165Ile
ENST00000303230.5:c.494C>T ENSP00000307342.4:p.Thr165Ile
ENST00000634658.1:c.494C>T ENSP00000489134.1:p.Thr165Ile
NM_021072.3:c.494C>T NP_066550.2:p.Thr165Ile
NM_021072.4:c.494C>T MANE Select NP_066550.2:p.Thr165Ile
Search 100 bp 5'
Search 100 bp 3'