Canonical Allele Identifier: CA1934469
Gene: IFIH1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162279995C>T , CM000664.2:g.162279995C>T GRCh38
NC_000002.11:g.163136505C>T , CM000664.1:g.163136505C>T GRCh37
NC_000002.10:g.162844751C>T NCBI36
NG_011495.1:g.43535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*1238+1G>A ENSP00000513228.1:n.*1238+1G>A
ENST00000648433.1:c.1524+1333G>A ENSP00000496816.1:n.1524+1333G>A
ENST00000649554.1:n.1251+1G>A
ENST00000649979.2:c.1641+1G>A MANE Select ENSP00000497271.1:n.1641+1G>A
ENST00000679938.1:c.1329+1G>A ENSP00000505518.1:n.1329+1G>A
ENST00000263642.2:c.1641+1G>A ENSP00000263642.2:n.1641+1G>A
NM_022168.3:c.1641+1G>A NP_071451.2:n.1641+1G>A
XM_011511628.1:c.924+1G>A XP_011509930.1:n.924+1G>A
XM_011511629.1:c.1641+1G>A XP_011509931.1:n.1641+1G>A
NM_022168.4:c.1641+1G>A MANE Select NP_071451.2:n.1641+1G>A