Canonical Allele Identifier: CA2661689497
Gene: IFIH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282571del , CM000664.2:g.162282571del GRCh38
NC_000002.11:g.163139081del , CM000664.1:g.163139081del GRCh37
NC_000002.10:g.162847327del NCBI36
NG_011495.1:g.40959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*698del ENSP00000513228.1:n.*698del
ENST00000648433.1:c.1101del ENSP00000496816.1:p.Leu368Ter
ENST00000649554.1:n.711del
ENST00000649979.2:c.1101del MANE Select ENSP00000497271.1:p.Leu368Ter
ENST00000679938.1:c.789del ENSP00000505518.1:p.Leu264Ter
ENST00000263642.2:c.1101del ENSP00000263642.2:p.Leu368Ter
NM_022168.3:c.1101del NP_071451.2:p.Leu368Ter
XM_011511628.1:c.384del XP_011509930.1:p.Leu129Ter
XM_011511629.1:c.1101del XP_011509931.1:p.Leu368Ter
NM_022168.4:c.1101del MANE Select NP_071451.2:p.Leu368Ter