Canonical Allele Identifier: CA199234
Gene: IFIH1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.162272377C>T
GRCh37 chr2:g.163128887C>T
Revel Score:
ENST00000263642 0.981
ENST00000543192 0.981
gnomAD v2:
2:163128887 C / T
gnomAD v4:
chr2-162272377-C-T
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000653 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162272377C>T , CM000664.2:g.162272377C>T GRCh38
NC_000002.11:g.163128887C>T , CM000664.1:g.163128887C>T GRCh37
NC_000002.10:g.162837133C>T NCBI36
NG_011495.1:g.51153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*2062G>A ENSP00000513228.1:n.*2062G>A
ENST00000648433.1:c.2348G>A ENSP00000496816.1:p.Arg783Gln
ENST00000649554.1:n.2075G>A
ENST00000649979.2:c.2465G>A MANE Select ENSP00000497271.1:p.Arg822Gln
ENST00000679938.1:c.2153G>A ENSP00000505518.1:p.Arg718Gln
ENST00000263642.2:c.2465G>A ENSP00000263642.2:p.Arg822Gln
NM_022168.3:c.2465G>A NP_071451.2:p.Arg822Gln
XM_011511628.1:c.1748G>A XP_011509930.1:p.Arg583Gln
NM_022168.4:c.2465G>A MANE Select NP_071451.2:p.Arg822Gln
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