Canonical Allele Identifier: CA348990750

Gene: IFIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268127T>A , CM000664.2:g.162268127T>A	GRCh38
NC_000002.11:g.163124637T>A , CM000664.1:g.163124637T>A	GRCh37
NC_000002.10:g.162832883T>A	NCBI36
NG_011495.1:g.55403A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022168.4:c.2767A>T MANE Select	NP_071451.2:p.Ile923Phe
ENST00000649979.2:c.2767A>T MANE Select	ENSP00000497271.1:p.Ile923Phe
NM_022168.3:c.2767A>T	NP_071451.2:p.Ile923Phe
ENST00000263642.2:c.2767A>T	ENSP00000263642.2:p.Ile923Phe
ENST00000648433.1:c.2650A>T	ENSP00000496816.1:p.Ile884Phe
ENST00000649426.1:n.11A>T
ENST00000649554.1:n.2377A>T
ENST00000679938.1:c.2455A>T	ENSP00000505518.1:p.Ile819Phe
ENST00000697291.1:c.*2364A>T	ENSP00000513228.1:n.*2364A>T
XM_011511628.1:c.2050A>T	XP_011509930.1:p.Ile684Phe