Canonical Allele Identifier: CA2752938484
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282480_162282481insCGTG , CM000664.2:g.162282480_162282481insCGTG GRCh38
NC_000002.11:g.163138990_163138991insCGTG , CM000664.1:g.163138990_163138991insCGTG GRCh37
NC_000002.10:g.162847236_162847237insCGTG NCBI36
NG_011495.1:g.41049_41050insCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*788_*789insCACG ENSP00000513228.1:n.*788_*789insCACG
ENST00000648433.1:c.1191_1192insCACG ENSP00000496816.1:p.Ile398HisfsTer12
ENST00000649554.1:n.801_802insCACG
ENST00000649979.2:c.1191_1192insCACG MANE Select ENSP00000497271.1:p.Ile398HisfsTer12
ENST00000679938.1:c.879_880insCACG ENSP00000505518.1:p.Ile294HisfsTer12
ENST00000263642.2:c.1191_1192insCACG ENSP00000263642.2:p.Ile398HisfsTer12
NM_022168.3:c.1191_1192insCACG NP_071451.2:p.Ile398HisfsTer12
XM_011511628.1:c.474_475insCACG XP_011509930.1:p.Ile159HisfsTer12
XM_011511629.1:c.1191_1192insCACG XP_011509931.1:p.Ile398HisfsTer12
NM_022168.4:c.1191_1192insCACG MANE Select NP_071451.2:p.Ile398HisfsTer12