Canonical Allele Identifier: CA1934540
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1669069
ClinVar RCV Id: RCV002198286
dbSNP Id: rs771166114
ExAC: 2:163137985 C / T
gnomAD v2: 2-163137985-C-T
gnomAD v4: 2-162281475-C-T
MyVariant Identifiers: chr2:g.163137985C>T (hg19) chr2:g.162281475C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281475C>T , CM000664.2:g.162281475C>T GRCh38
NC_000002.11:g.163137985C>T , CM000664.1:g.163137985C>T GRCh37
NC_000002.10:g.162846231C>T NCBI36
NG_011495.1:g.42055G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*974G>A ENSP00000513228.1:n.*974G>A
ENST00000648433.1:c.1377G>A ENSP00000496816.1:p.Arg459=
ENST00000649554.1:n.987G>A
ENST00000649979.2:c.1377G>A MANE Select ENSP00000497271.1:p.Arg459=
ENST00000679938.1:c.1065G>A ENSP00000505518.1:p.Arg355=
ENST00000263642.2:c.1377G>A ENSP00000263642.2:p.Arg459=
NM_022168.3:c.1377G>A NP_071451.2:p.Arg459=
XM_011511628.1:c.660G>A XP_011509930.1:p.Arg220=
XM_011511629.1:c.1377G>A XP_011509931.1:p.Arg459=
NM_022168.4:c.1377G>A MANE Select NP_071451.2:p.Arg459=
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Search 100 bp 3'