Canonical Allele Identifier: CA537507610
Gene: IFIH1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.162310944A>G
GRCh37 chr2:g.163167454A>G
gnomAD v2:
2:163167454 A / G
gnomAD v3:
2:162310944 A / G
gnomAD v4:
chr2-162310944-A-G
Joint Max Group AF 0.00001891 (NFE)
Exomes Max Group AF 0.00001922 (NFE)
ClinVar Allele:
1627742
ClinVar RCV:
RCV002108765
ClinVar Variation:
1623116
dbSNP:
1198189984
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162310944A>G , CM000664.2:g.162310944A>G GRCh38
NC_000002.11:g.163167454A>G , CM000664.1:g.163167454A>G GRCh37
NC_000002.10:g.162875700A>G NCBI36
NG_011495.1:g.12586T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*51-11T>C ENSP00000513228.1:n.*51-11T>C
ENST00000648433.1:c.454-11T>C ENSP00000496816.1:n.454-11T>C
ENST00000649554.1:n.64-11T>C
ENST00000649979.2:c.454-11T>C MANE Select ENSP00000497271.1:n.454-11T>C
ENST00000679938.1:c.289-11T>C ENSP00000505518.1:n.289-11T>C
ENST00000263642.2:c.454-11T>C ENSP00000263642.2:n.454-11T>C
ENST00000421365.2:c.454-11T>C ENSP00000408450.2:n.454-11T>C
NM_022168.3:c.454-11T>C NP_071451.2:n.454-11T>C
XM_011511629.1:c.454-11T>C XP_011509931.1:n.454-11T>C
NM_022168.4:c.454-11T>C MANE Select NP_071451.2:n.454-11T>C
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