Canonical Allele Identifier: CA1303149369
Community Standard Title: NM_022168.4(IFIH1):c.1114C= (p.Leu372=)
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282558G= , CM000664.2:g.162282558G= GRCh38
NC_000002.11:g.163139068G= , CM000664.1:g.163139068G= GRCh37
NC_000002.10:g.162847314G= NCBI36
NG_011495.1:g.40972C=

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.1114C= MANE Select NP_071451.2:p.Leu372=
ENST00000649979.2:c.1114C= MANE Select ENSP00000497271.1:p.Leu372=
NM_022168.3:c.1114C= NP_071451.2:p.Leu372=
ENST00000263642.2:c.1114C= ENSP00000263642.2:p.Leu372=
ENST00000648433.1:c.1114C= ENSP00000496816.1:p.Leu372=
ENST00000649554.1:n.724C=
ENST00000679938.1:c.802C= ENSP00000505518.1:p.Leu268=
ENST00000697291.1:c.*711C= ENSP00000513228.1:n.*711C=
XM_011511628.1:c.397C= XP_011509930.1:p.Leu133=
XM_011511629.1:c.1114C= XP_011509931.1:p.Leu372=