Canonical Allele Identifier: CA1934875
Community Standard Title: NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162318079G>A , CM000664.2:g.162318079G>A GRCh38
NC_000002.11:g.163174589G>A , CM000664.1:g.163174589G>A GRCh37
NC_000002.10:g.162882835G>A NCBI36
NG_011495.1:g.5451C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022168.4:c.229C>T MANE Select NP_071451.2:p.Arg77Trp
ENST00000649979.2:c.229C>T MANE Select ENSP00000497271.1:p.Arg77Trp
NM_022168.3:c.229C>T NP_071451.2:p.Arg77Trp
ENST00000263642.2:c.229C>T ENSP00000263642.2:p.Arg77Trp
ENST00000421365.2:c.229C>T ENSP00000408450.2:p.Arg77Trp
ENST00000648433.1:c.229C>T ENSP00000496816.1:p.Arg77Trp
ENST00000679938.1:c.64C>T ENSP00000505518.1:p.Arg22Trp
ENST00000697291.1:c.229C>T ENSP00000513228.1:p.Arg77Trp
XM_011511629.1:c.229C>T XP_011509931.1:p.Arg77Trp