Canonical Allele Identifier: CA163191
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 137623
ClinVar RCV Id: RCV000125472
dbSNP Id: rs587777447

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162288221T>C , CM000664.2:g.162288221T>C GRCh38
NC_000002.11:g.163144731T>C , CM000664.1:g.163144731T>C GRCh37
NC_000002.10:g.162852977T>C NCBI36
NG_011495.1:g.35309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*606A>G ENSP00000513228.1:n.*606A>G
ENST00000648433.1:c.1009A>G ENSP00000496816.1:p.Arg337Gly
ENST00000649554.1:n.619A>G
ENST00000649979.2:c.1009A>G MANE Select ENSP00000497271.1:p.Arg337Gly
ENST00000679938.1:c.697A>G ENSP00000505518.1:p.Arg233Gly
ENST00000263642.2:c.1009A>G ENSP00000263642.2:p.Arg337Gly
NM_022168.3:c.1009A>G NP_071451.2:p.Arg337Gly
XM_011511628.1:c.292A>G XP_011509930.1:p.Arg98Gly
XM_011511629.1:c.1009A>G XP_011509931.1:p.Arg337Gly
NM_022168.4:c.1009A>G MANE Select NP_071451.2:p.Arg337Gly