Canonical Allele Identifier: CA348999576
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162277612G>A , CM000664.2:g.162277612G>A GRCh38
NC_000002.11:g.163134122G>A , CM000664.1:g.163134122G>A GRCh37
NC_000002.10:g.162842368G>A NCBI36
NG_011495.1:g.45918C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.1847C>T MANE Select NP_071451.2:p.Thr616Ile
ENST00000649979.2:c.1847C>T MANE Select ENSP00000497271.1:p.Thr616Ile
NM_022168.3:c.1847C>T NP_071451.2:p.Thr616Ile
ENST00000263642.2:c.1847C>T ENSP00000263642.2:p.Thr616Ile
ENST00000648433.1:c.1730C>T ENSP00000496816.1:p.Thr577Ile
ENST00000649554.1:n.1457C>T
ENST00000679938.1:c.1535C>T ENSP00000505518.1:p.Thr512Ile
ENST00000697291.1:c.*1444C>T ENSP00000513228.1:n.*1444C>T
XM_011511628.1:c.1130C>T XP_011509930.1:p.Thr377Ile
XM_011511629.1:c.*21C>T XP_011509931.1:n.*21C>T