Canonical Allele Identifier: CA2547538364
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281590T>C , CM000664.2:g.162281590T>C GRCh38
NC_000002.11:g.163138100T>C , CM000664.1:g.163138100T>C GRCh37
NC_000002.10:g.162846346T>C NCBI36
NG_011495.1:g.41940A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*904-45A>G ENSP00000513228.1:n.*904-45A>G
ENST00000648433.1:c.1307-45A>G ENSP00000496816.1:n.1307-45A>G
ENST00000649554.1:n.917-45A>G
ENST00000649979.2:c.1307-45A>G MANE Select ENSP00000497271.1:n.1307-45A>G
ENST00000679938.1:c.995-45A>G ENSP00000505518.1:n.995-45A>G
ENST00000263642.2:c.1307-45A>G ENSP00000263642.2:n.1307-45A>G
NM_022168.3:c.1307-45A>G NP_071451.2:n.1307-45A>G
XM_011511628.1:c.590-45A>G XP_011509930.1:n.590-45A>G
XM_011511629.1:c.1307-45A>G XP_011509931.1:n.1307-45A>G
NM_022168.4:c.1307-45A>G MANE Select NP_071451.2:n.1307-45A>G