Canonical Allele Identifier: CA1303145091
Community Standard Title: NM_022168.4(IFIH1):c.1879G= (p.Glu627=)
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162277580C= , CM000664.2:g.162277580C= GRCh38
NC_000002.11:g.163134090C= , CM000664.1:g.163134090C= GRCh37
NC_000002.10:g.162842336C= NCBI36
NG_011495.1:g.45950G=

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.1879G= MANE Select NP_071451.2:p.Glu627=
ENST00000649979.2:c.1879G= MANE Select ENSP00000497271.1:p.Glu627=
NM_022168.3:c.1879G= NP_071451.2:p.Glu627=
ENST00000263642.2:c.1879G= ENSP00000263642.2:p.Glu627=
ENST00000648433.1:c.1762G= ENSP00000496816.1:p.Glu588=
ENST00000649554.1:n.1489G=
ENST00000679938.1:c.1567G= ENSP00000505518.1:p.Glu523=
ENST00000697291.1:c.*1476G= ENSP00000513228.1:n.*1476G=
XM_011511628.1:c.1162G= XP_011509930.1:p.Glu388=
XM_011511629.1:c.*53G= XP_011509931.1:n.*53G=