Canonical Allele Identifier: CA2673782210
Gene: HCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645596del , CM000667.2:g.45645596del GRCh38
NC_000005.9:g.45645698del , CM000667.1:g.45645698del GRCh37
NC_000005.8:g.45681455del NCBI36
NG_042183.1:g.55525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.440del MANE Select ENSP00000307342.4:p.Leu147Ter
ENST00000673735.1:c.440del ENSP00000501107.1:p.Leu147Ter
ENST00000303230.5:c.440del ENSP00000307342.4:p.Leu147Ter
ENST00000634658.1:c.440del ENSP00000489134.1:p.Leu147Ter
NM_021072.3:c.440del NP_066550.2:p.Leu147Ter
NM_021072.4:c.440del MANE Select NP_066550.2:p.Leu147Ter