Canonical Allele Identifier: CA429528197
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163124058T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267548T>C , CM000664.2:g.162267548T>C GRCh38
NC_000002.11:g.163124058T>C , CM000664.1:g.163124058T>C GRCh37
NC_000002.10:g.162832304T>C NCBI36
NG_011495.1:g.55982A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*2426A>G ENSP00000513228.1:n.*2426A>G
ENST00000648433.1:c.2712A>G ENSP00000496816.1:p.Glu904=
ENST00000649426.1:n.590A>G
ENST00000649554.1:n.2439A>G
ENST00000649979.2:c.2829A>G MANE Select ENSP00000497271.1:p.Glu943=
ENST00000679938.1:c.2517A>G ENSP00000505518.1:p.Glu839=
ENST00000263642.2:c.2829A>G ENSP00000263642.2:p.Glu943=
NM_022168.3:c.2829A>G NP_071451.2:p.Glu943=
XM_011511628.1:c.2112A>G XP_011509930.1:p.Glu704=
NM_022168.4:c.2829A>G MANE Select NP_071451.2:p.Glu943=