Canonical Allele Identifier: CA349002169

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137912T>A (hg19) ; chr2:g.162281402T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281402T>A , CM000664.2:g.162281402T>A	GRCh38
NC_000002.11:g.163137912T>A , CM000664.1:g.163137912T>A	GRCh37
NC_000002.10:g.162846158T>A	NCBI36
NG_011495.1:g.42128A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1047A>T	ENSP00000513228.1:n.*1047A>T
ENST00000648433.1:c.1450A>T	ENSP00000496816.1:p.Ile484Leu
ENST00000649554.1:n.1060A>T
ENST00000649979.2:c.1450A>T MANE Select	ENSP00000497271.1:p.Ile484Leu
ENST00000679938.1:c.1138A>T	ENSP00000505518.1:p.Ile380Leu
ENST00000263642.2:c.1450A>T	ENSP00000263642.2:p.Ile484Leu
NM_022168.3:c.1450A>T	NP_071451.2:p.Ile484Leu
XM_011511628.1:c.733A>T	XP_011509930.1:p.Ile245Leu
XM_011511629.1:c.1450A>T	XP_011509931.1:p.Ile484Leu
NM_022168.4:c.1450A>T MANE Select	NP_071451.2:p.Ile484Leu