Canonical Allele Identifier: CA349002833

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162282456-A-G
• MyVariant Identifiers: chr2:g.163138966A>G (hg19) ; chr2:g.162282456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282456A>G , CM000664.2:g.162282456A>G	GRCh38
NC_000002.11:g.163138966A>G , CM000664.1:g.163138966A>G	GRCh37
NC_000002.10:g.162847212A>G	NCBI36
NG_011495.1:g.41074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*813T>C	ENSP00000513228.1:n.*813T>C
ENST00000648433.1:c.1216T>C	ENSP00000496816.1:p.Ser406Pro
ENST00000649554.1:n.826T>C
ENST00000649979.2:c.1216T>C MANE Select	ENSP00000497271.1:p.Ser406Pro
ENST00000679938.1:c.904T>C	ENSP00000505518.1:p.Ser302Pro
ENST00000263642.2:c.1216T>C	ENSP00000263642.2:p.Ser406Pro
NM_022168.3:c.1216T>C	NP_071451.2:p.Ser406Pro
XM_011511628.1:c.499T>C	XP_011509930.1:p.Ser167Pro
XM_011511629.1:c.1216T>C	XP_011509931.1:p.Ser406Pro
NM_022168.4:c.1216T>C MANE Select	NP_071451.2:p.Ser406Pro