Canonical Allele Identifier: CA1934527
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2292069
ClinVar RCV Id: RCV002849320
dbSNP Id: rs756712486
ExAC: 2:163137914 T / C
gnomAD v2: 2-163137914-T-C
gnomAD v3: 2-162281404-T-C
gnomAD v4: 2-162281404-T-C
MyVariant Identifiers: chr2:g.163137914T>C (hg19) chr2:g.162281404T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281404T>C , CM000664.2:g.162281404T>C GRCh38
NC_000002.11:g.163137914T>C , CM000664.1:g.163137914T>C GRCh37
NC_000002.10:g.162846160T>C NCBI36
NG_011495.1:g.42126A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*1045A>G ENSP00000513228.1:n.*1045A>G
ENST00000648433.1:c.1448A>G ENSP00000496816.1:p.Gln483Arg
ENST00000649554.1:n.1058A>G
ENST00000649979.2:c.1448A>G MANE Select ENSP00000497271.1:p.Gln483Arg
ENST00000679938.1:c.1136A>G ENSP00000505518.1:p.Gln379Arg
ENST00000263642.2:c.1448A>G ENSP00000263642.2:p.Gln483Arg
NM_022168.3:c.1448A>G NP_071451.2:p.Gln483Arg
XM_011511628.1:c.731A>G XP_011509930.1:p.Gln244Arg
XM_011511629.1:c.1448A>G XP_011509931.1:p.Gln483Arg
NM_022168.4:c.1448A>G MANE Select NP_071451.2:p.Gln483Arg
Search 100 bp 5'
Search 100 bp 3'