Canonical Allele Identifier: CA1934030

Gene: IFIH1

Linked Data

• dbSNP Id: rs776625758
• ExAC: 2:163123942 C / CATTCCTGTT
• MyVariant Identifiers: chr2:g.163123942_163123943insATTCCTGTT (hg19) ; chr2:g.162267432_162267433insATTCCTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267433_162267441dup , CM000664.2:g.162267433_162267441dup	GRCh38
NC_000002.11:g.163123943_163123951dup , CM000664.1:g.163123943_163123951dup	GRCh37
NC_000002.10:g.162832189_162832197dup	NCBI36
NG_011495.1:g.56089_56097dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+38_*2495+46dup	ENSP00000513228.1:n.*2495+38_*2495+46dup
ENST00000648433.1:c.2781+38_2781+46dup	ENSP00000496816.1:n.2781+38_2781+46dup
ENST00000649426.1:n.659+38_659+46dup
ENST00000649554.1:n.2508+38_2508+46dup
ENST00000649979.2:c.2898+38_2898+46dup MANE Select	ENSP00000497271.1:n.2898+38_2898+46dup
ENST00000679938.1:c.2586+38_2586+46dup	ENSP00000505518.1:n.2586+38_2586+46dup
ENST00000263642.2:c.2898+38_2898+46dup	ENSP00000263642.2:n.2898+38_2898+46dup
NM_022168.3:c.2898+38_2898+46dup	NP_071451.2:n.2898+38_2898+46dup
XM_011511628.1:c.2181+38_2181+46dup	XP_011509930.1:n.2181+38_2181+46dup
NM_022168.4:c.2898+38_2898+46dup MANE Select	NP_071451.2:n.2898+38_2898+46dup