Canonical Allele Identifier: CA349002461

Gene: IFIH1

Linked Data

• dbSNP Id: rs10930046
• gnomAD v3: 2-162281473-T-A
• gnomAD v4: 2-162281473-T-A
• MyVariant Identifiers: chr2:g.163137983T>A (hg19) ; chr2:g.162281473T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281473T>A , CM000664.2:g.162281473T>A	GRCh38
NC_000002.11:g.163137983T>A , CM000664.1:g.163137983T>A	GRCh37
NC_000002.10:g.162846229T>A	NCBI36
NG_011495.1:g.42057A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*976A>T	ENSP00000513228.1:n.*976A>T
ENST00000648433.1:c.1379A>T	ENSP00000496816.1:p.His460Leu
ENST00000649554.1:n.989A>T
ENST00000649979.2:c.1379A>T MANE Select	ENSP00000497271.1:p.His460Leu
ENST00000679938.1:c.1067A>T	ENSP00000505518.1:p.His356Leu
ENST00000263642.2:c.1379A>T	ENSP00000263642.2:p.His460Leu
NM_022168.3:c.1379A>T	NP_071451.2:p.His460Leu
XM_011511628.1:c.662A>T	XP_011509930.1:p.His221Leu
XM_011511629.1:c.1379A>T	XP_011509931.1:p.His460Leu
NM_022168.4:c.1379A>T MANE Select	NP_071451.2:p.His460Leu