Canonical Allele Identifier: CA1934578

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2079513
• ClinVar RCV Id: RCV002995431
• dbSNP Id: rs762510649
• ExAC: 2:163138912 A / G
• gnomAD v2: 2-163138912-A-G
• gnomAD v3: 2-162282402-A-G
• gnomAD v4: 2-162282402-A-G
• MyVariant Identifiers: chr2:g.163138912A>G (hg19) ; chr2:g.162282402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282402A>G , CM000664.2:g.162282402A>G	GRCh38
NC_000002.11:g.163138912A>G , CM000664.1:g.163138912A>G	GRCh37
NC_000002.10:g.162847158A>G	NCBI36
NG_011495.1:g.41128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*867T>C	ENSP00000513228.1:n.*867T>C
ENST00000648433.1:c.1270T>C	ENSP00000496816.1:p.Leu424=
ENST00000649554.1:n.880T>C
ENST00000649979.2:c.1270T>C MANE Select	ENSP00000497271.1:p.Leu424=
ENST00000679938.1:c.958T>C	ENSP00000505518.1:p.Leu320=
ENST00000263642.2:c.1270T>C	ENSP00000263642.2:p.Leu424=
NM_022168.3:c.1270T>C	NP_071451.2:p.Leu424=
XM_011511628.1:c.553T>C	XP_011509930.1:p.Leu185=
XM_011511629.1:c.1270T>C	XP_011509931.1:p.Leu424=
NM_022168.4:c.1270T>C MANE Select	NP_071451.2:p.Leu424=