Canonical Allele Identifier: CA1934606

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 425215
• ClinVar RCV Id: RCV000487851 ; RCV001085647 ; RCV003942603
• dbSNP Id: rs145520044
• ExAC: 2:163139061 C / T
• gnomAD v2: 2-163139061-C-T
• gnomAD v3: 2-162282551-C-T
• gnomAD v4: 2-162282551-C-T
• MyVariant Identifiers: chr2:g.163139061C>T (hg19) ; chr2:g.162282551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282551C>T , CM000664.2:g.162282551C>T	GRCh38
NC_000002.11:g.163139061C>T , CM000664.1:g.163139061C>T	GRCh37
NC_000002.10:g.162847307C>T	NCBI36
NG_011495.1:g.40979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*718G>A	ENSP00000513228.1:n.*718G>A
ENST00000648433.1:c.1121G>A	ENSP00000496816.1:p.Arg374His
ENST00000649554.1:n.731G>A
ENST00000649979.2:c.1121G>A MANE Select	ENSP00000497271.1:p.Arg374His
ENST00000679938.1:c.809G>A	ENSP00000505518.1:p.Arg270His
ENST00000263642.2:c.1121G>A	ENSP00000263642.2:p.Arg374His
NM_022168.3:c.1121G>A	NP_071451.2:p.Arg374His
XM_011511628.1:c.404G>A	XP_011509930.1:p.Arg135His
XM_011511629.1:c.1121G>A	XP_011509931.1:p.Arg374His
NM_022168.4:c.1121G>A MANE Select	NP_071451.2:p.Arg374His