Canonical Allele Identifier: CA349002870

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163138983A>T (hg19) ; chr2:g.162282473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282473A>T , CM000664.2:g.162282473A>T	GRCh38
NC_000002.11:g.163138983A>T , CM000664.1:g.163138983A>T	GRCh37
NC_000002.10:g.162847229A>T	NCBI36
NG_011495.1:g.41057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*796T>A	ENSP00000513228.1:n.*796T>A
ENST00000648433.1:c.1199T>A	ENSP00000496816.1:p.Phe400Tyr
ENST00000649554.1:n.809T>A
ENST00000649979.2:c.1199T>A MANE Select	ENSP00000497271.1:p.Phe400Tyr
ENST00000679938.1:c.887T>A	ENSP00000505518.1:p.Phe296Tyr
ENST00000263642.2:c.1199T>A	ENSP00000263642.2:p.Phe400Tyr
NM_022168.3:c.1199T>A	NP_071451.2:p.Phe400Tyr
XM_011511628.1:c.482T>A	XP_011509930.1:p.Phe161Tyr
XM_011511629.1:c.1199T>A	XP_011509931.1:p.Phe400Tyr
NM_022168.4:c.1199T>A MANE Select	NP_071451.2:p.Phe400Tyr