Canonical Allele Identifier: CA163193
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 137625
ClinVar RCV Id: RCV000125474
dbSNP Id: rs672601336

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281369C>T , CM000664.2:g.162281369C>T GRCh38
NC_000002.11:g.163137879C>T , CM000664.1:g.163137879C>T GRCh37
NC_000002.10:g.162846125C>T NCBI36
NG_011495.1:g.42161G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*1080G>A ENSP00000513228.1:n.*1080G>A
ENST00000648433.1:c.1483G>A ENSP00000496816.1:p.Gly495Arg
ENST00000649554.1:n.1093G>A
ENST00000649979.2:c.1483G>A MANE Select ENSP00000497271.1:p.Gly495Arg
ENST00000679938.1:c.1171G>A ENSP00000505518.1:p.Gly391Arg
ENST00000263642.2:c.1483G>A ENSP00000263642.2:p.Gly495Arg
NM_022168.3:c.1483G>A NP_071451.2:p.Gly495Arg
XM_011511628.1:c.766G>A XP_011509930.1:p.Gly256Arg
XM_011511629.1:c.1483G>A XP_011509931.1:p.Gly495Arg
NM_022168.4:c.1483G>A MANE Select NP_071451.2:p.Gly495Arg