Canonical Allele Identifier: CA359707736
Gene: HCN1 HGNC NCBI

Linked Data

gnomAD v4: 5-45645516-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645516G>T , CM000667.2:g.45645516G>T GRCh38
NC_000005.9:g.45645618G>T , CM000667.1:g.45645618G>T GRCh37
NC_000005.8:g.45681375G>T NCBI36
NG_042183.1:g.55603C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303230.6:c.518C>A MANE Select ENSP00000307342.4:p.Thr173Lys
ENST00000673735.1:c.518C>A ENSP00000501107.1:p.Thr173Lys
ENST00000303230.5:c.518C>A ENSP00000307342.4:p.Thr173Lys
ENST00000634658.1:c.518C>A ENSP00000489134.1:p.Thr173Lys
NM_021072.3:c.518C>A NP_066550.2:p.Thr173Lys
NM_021072.4:c.518C>A MANE Select NP_066550.2:p.Thr173Lys