Canonical Allele Identifier: CA429536109
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163139000G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282490G>C , CM000664.2:g.162282490G>C GRCh38
NC_000002.11:g.163139000G>C , CM000664.1:g.163139000G>C GRCh37
NC_000002.10:g.162847246G>C NCBI36
NG_011495.1:g.41040C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*779C>G ENSP00000513228.1:n.*779C>G
ENST00000648433.1:c.1182C>G ENSP00000496816.1:p.Thr394=
ENST00000649554.1:n.792C>G
ENST00000649979.2:c.1182C>G MANE Select ENSP00000497271.1:p.Thr394=
ENST00000679938.1:c.870C>G ENSP00000505518.1:p.Thr290=
ENST00000263642.2:c.1182C>G ENSP00000263642.2:p.Thr394=
NM_022168.3:c.1182C>G NP_071451.2:p.Thr394=
XM_011511628.1:c.465C>G XP_011509930.1:p.Thr155=
XM_011511629.1:c.1182C>G XP_011509931.1:p.Thr394=
NM_022168.4:c.1182C>G MANE Select NP_071451.2:p.Thr394=