Canonical Allele Identifier: CA359707816
Gene: HCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1745533058
gnomAD v4: 5-45645552-G-T
MyVariant Identifiers: chr5:g.45645654G>T (hg19) chr5:g.45645552G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645552G>T , CM000667.2:g.45645552G>T GRCh38
NC_000005.9:g.45645654G>T , CM000667.1:g.45645654G>T GRCh37
NC_000005.8:g.45681411G>T NCBI36
NG_042183.1:g.55567C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.482C>A MANE Select ENSP00000307342.4:p.Pro161Gln
ENST00000673735.1:c.482C>A ENSP00000501107.1:p.Pro161Gln
ENST00000303230.5:c.482C>A ENSP00000307342.4:p.Pro161Gln
ENST00000634658.1:c.482C>A ENSP00000489134.1:p.Pro161Gln
NM_021072.3:c.482C>A NP_066550.2:p.Pro161Gln
NM_021072.4:c.482C>A MANE Select NP_066550.2:p.Pro161Gln
Search 100 bp 5'
Search 100 bp 3'