Canonical Allele Identifier: CA537507457
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486242
ClinVar RCV Id: RCV002003452
dbSNP Id: rs1414913745
gnomAD v2: 2-163174447-G-GT
gnomAD v3: 2-162317937-G-GT
gnomAD v4: 2-162317937-G-GT
MyVariant Identifiers: chr2:g.163174447_163174448insT (hg19) chr2:g.162317937_162317938insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162317938dup , CM000664.2:g.162317938dup GRCh38
NC_000002.11:g.163174448dup , CM000664.1:g.163174448dup GRCh37
NC_000002.10:g.162882694dup NCBI36
NG_011495.1:g.5592dup

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.370dup ENSP00000513228.1:p.Thr124AsnfsTer9
ENST00000648433.1:c.370dup ENSP00000496816.1:p.Thr124AsnfsTer9
ENST00000649979.2:c.370dup MANE Select ENSP00000497271.1:p.Thr124AsnfsTer9
ENST00000679938.1:c.205dup ENSP00000505518.1:p.Thr69AsnfsTer9
ENST00000263642.2:c.370dup ENSP00000263642.2:p.Thr124AsnfsTer9
ENST00000421365.2:c.370dup ENSP00000408450.2:p.Thr124AsnfsTer9
NM_022168.3:c.370dup NP_071451.2:p.Thr124AsnfsTer9
XM_011511629.1:c.370dup XP_011509931.1:p.Thr124AsnfsTer9
NM_022168.4:c.370dup MANE Select NP_071451.2:p.Thr124AsnfsTer9
Search 100 bp 5'
Search 100 bp 3'