Canonical Allele Identifier: CA2573133442

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1401785
• ClinVar RCV Id: RCV001913119

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281473_162281474delinsCA , CM000664.2:g.162281473_162281474delinsCA	GRCh38
NC_000002.11:g.163137983_163137984delinsCA , CM000664.1:g.163137983_163137984delinsCA	GRCh37
NC_000002.10:g.162846229_162846230delinsCA	NCBI36
NG_011495.1:g.42056_42057delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*975_*976delinsTG	ENSP00000513228.1:n.*975_*976delinsTG
ENST00000648433.1:c.1378_1379delinsTG	ENSP00000496816.1:p.His460Cys
ENST00000649554.1:n.988_989delinsTG
ENST00000649979.2:c.1378_1379delinsTG MANE Select	ENSP00000497271.1:p.His460Cys
ENST00000679938.1:c.1066_1067delinsTG	ENSP00000505518.1:p.His356Cys
ENST00000263642.2:c.1378_1379delinsTG	ENSP00000263642.2:p.His460Cys
NM_022168.3:c.1378_1379delinsTG	NP_071451.2:p.His460Cys
XM_011511628.1:c.661_662delinsTG	XP_011509930.1:p.His221Cys
XM_011511629.1:c.1378_1379delinsTG	XP_011509931.1:p.His460Cys
NM_022168.4:c.1378_1379delinsTG MANE Select	NP_071451.2:p.His460Cys