Canonical Allele Identifier: CA349002798

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163138949G>C (hg19) ; chr2:g.162282439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282439G>C , CM000664.2:g.162282439G>C	GRCh38
NC_000002.11:g.163138949G>C , CM000664.1:g.163138949G>C	GRCh37
NC_000002.10:g.162847195G>C	NCBI36
NG_011495.1:g.41091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*830C>G	ENSP00000513228.1:n.*830C>G
ENST00000648433.1:c.1233C>G	ENSP00000496816.1:p.Ile411Met
ENST00000649554.1:n.843C>G
ENST00000649979.2:c.1233C>G MANE Select	ENSP00000497271.1:p.Ile411Met
ENST00000679938.1:c.921C>G	ENSP00000505518.1:p.Ile307Met
ENST00000263642.2:c.1233C>G	ENSP00000263642.2:p.Ile411Met
NM_022168.3:c.1233C>G	NP_071451.2:p.Ile411Met
XM_011511628.1:c.516C>G	XP_011509930.1:p.Ile172Met
XM_011511629.1:c.1233C>G	XP_011509931.1:p.Ile411Met
NM_022168.4:c.1233C>G MANE Select	NP_071451.2:p.Ile411Met