Canonical Allele Identifier: CA349002893

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163138993T>G (hg19) ; chr2:g.162282483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282483T>G , CM000664.2:g.162282483T>G	GRCh38
NC_000002.11:g.163138993T>G , CM000664.1:g.163138993T>G	GRCh37
NC_000002.10:g.162847239T>G	NCBI36
NG_011495.1:g.41047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*786A>C	ENSP00000513228.1:n.*786A>C
ENST00000648433.1:c.1189A>C	ENSP00000496816.1:p.Lys397Gln
ENST00000649554.1:n.799A>C
ENST00000649979.2:c.1189A>C MANE Select	ENSP00000497271.1:p.Lys397Gln
ENST00000679938.1:c.877A>C	ENSP00000505518.1:p.Lys293Gln
ENST00000263642.2:c.1189A>C	ENSP00000263642.2:p.Lys397Gln
NM_022168.3:c.1189A>C	NP_071451.2:p.Lys397Gln
XM_011511628.1:c.472A>C	XP_011509930.1:p.Lys158Gln
XM_011511629.1:c.1189A>C	XP_011509931.1:p.Lys397Gln
NM_022168.4:c.1189A>C MANE Select	NP_071451.2:p.Lys397Gln