Canonical Allele Identifier: CA349003130

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162282546-C-A
• MyVariant Identifiers: chr2:g.163139056C>A (hg19) ; chr2:g.162282546C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282546C>A , CM000664.2:g.162282546C>A	GRCh38
NC_000002.11:g.163139056C>A , CM000664.1:g.163139056C>A	GRCh37
NC_000002.10:g.162847302C>A	NCBI36
NG_011495.1:g.40984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*723G>T	ENSP00000513228.1:n.*723G>T
ENST00000648433.1:c.1126G>T	ENSP00000496816.1:p.Glu376Ter
ENST00000649554.1:n.736G>T
ENST00000649979.2:c.1126G>T MANE Select	ENSP00000497271.1:p.Glu376Ter
ENST00000679938.1:c.814G>T	ENSP00000505518.1:p.Glu272Ter
ENST00000263642.2:c.1126G>T	ENSP00000263642.2:p.Glu376Ter
NM_022168.3:c.1126G>T	NP_071451.2:p.Glu376Ter
XM_011511628.1:c.409G>T	XP_011509930.1:p.Glu137Ter
XM_011511629.1:c.1126G>T	XP_011509931.1:p.Glu376Ter
NM_022168.4:c.1126G>T MANE Select	NP_071451.2:p.Glu376Ter