Canonical Allele Identifier: CA429535742
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163137987T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281477T>G , CM000664.2:g.162281477T>G GRCh38
NC_000002.11:g.163137987T>G , CM000664.1:g.163137987T>G GRCh37
NC_000002.10:g.162846233T>G NCBI36
NG_011495.1:g.42053A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*972A>C ENSP00000513228.1:n.*972A>C
ENST00000648433.1:c.1375A>C ENSP00000496816.1:p.Arg459=
ENST00000649554.1:n.985A>C
ENST00000649979.2:c.1375A>C MANE Select ENSP00000497271.1:p.Arg459=
ENST00000679938.1:c.1063A>C ENSP00000505518.1:p.Arg355=
ENST00000263642.2:c.1375A>C ENSP00000263642.2:p.Arg459=
NM_022168.3:c.1375A>C NP_071451.2:p.Arg459=
XM_011511628.1:c.658A>C XP_011509930.1:p.Arg220=
XM_011511629.1:c.1375A>C XP_011509931.1:p.Arg459=
NM_022168.4:c.1375A>C MANE Select NP_071451.2:p.Arg459=