Canonical Allele Identifier: CA1303149343
Community Standard Title: NM_022168.4(IFIH1):c.1178A= (p.Asp393=)
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282494T= , CM000664.2:g.162282494T= GRCh38
NC_000002.11:g.163139004T= , CM000664.1:g.163139004T= GRCh37
NC_000002.10:g.162847250T= NCBI36
NG_011495.1:g.41036A=

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.1178A= MANE Select NP_071451.2:p.Asp393=
ENST00000649979.2:c.1178A= MANE Select ENSP00000497271.1:p.Asp393=
NM_022168.3:c.1178A= NP_071451.2:p.Asp393=
ENST00000263642.2:c.1178A= ENSP00000263642.2:p.Asp393=
ENST00000648433.1:c.1178A= ENSP00000496816.1:p.Asp393=
ENST00000649554.1:n.788A=
ENST00000679938.1:c.866A= ENSP00000505518.1:p.Asp289=
ENST00000697291.1:c.*775A= ENSP00000513228.1:n.*775A=
XM_011511628.1:c.461A= XP_011509930.1:p.Asp154=
XM_011511629.1:c.1178A= XP_011509931.1:p.Asp393=