Canonical Allele Identifier: CA1934596

Gene: IFIH1

Linked Data

• dbSNP Id: rs754225603
• ExAC: 2:163139010 C / CG
• gnomAD v2: 2-163139010-C-CG
• MyVariant Identifiers: chr2:g.163139010_163139011insG (hg19) ; chr2:g.162282500_162282501insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282500_162282501insG , CM000664.2:g.162282500_162282501insG	GRCh38
NC_000002.11:g.163139010_163139011insG , CM000664.1:g.163139010_163139011insG	GRCh37
NC_000002.10:g.162847256_162847257insG	NCBI36
NG_011495.1:g.41029_41030insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*768_*769insC	ENSP00000513228.1:n.*768_*769insC
ENST00000648433.1:c.1171_1172insC	ENSP00000496816.1:p.Ser391ThrfsTer3
ENST00000649554.1:n.781_782insC
ENST00000649979.2:c.1171_1172insC MANE Select	ENSP00000497271.1:p.Ser391ThrfsTer3
ENST00000679938.1:c.859_860insC	ENSP00000505518.1:p.Ser287ThrfsTer3
ENST00000263642.2:c.1171_1172insC	ENSP00000263642.2:p.Ser391ThrfsTer3
NM_022168.3:c.1171_1172insC	NP_071451.2:p.Ser391ThrfsTer3
XM_011511628.1:c.454_455insC	XP_011509930.1:p.Ser152ThrfsTer3
XM_011511629.1:c.1171_1172insC	XP_011509931.1:p.Ser391ThrfsTer3
NM_022168.4:c.1171_1172insC MANE Select	NP_071451.2:p.Ser391ThrfsTer3