Canonical Allele Identifier: CA1934574
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1130132
ClinVar RCV Id: RCV001463528
dbSNP Id: rs777314172
ExAC: 2:163138882 A / G
gnomAD v2: 2-163138882-A-G
gnomAD v3: 2-162282372-A-G
gnomAD v4: 2-162282372-A-G
MyVariant Identifiers: chr2:g.163138882A>G (hg19) chr2:g.162282372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282372A>G , CM000664.2:g.162282372A>G GRCh38
NC_000002.11:g.163138882A>G , CM000664.1:g.163138882A>G GRCh37
NC_000002.10:g.162847128A>G NCBI36
NG_011495.1:g.41158T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*897T>C ENSP00000513228.1:n.*897T>C
ENST00000648433.1:c.1300T>C ENSP00000496816.1:p.Leu434=
ENST00000649554.1:n.910T>C
ENST00000649979.2:c.1300T>C MANE Select ENSP00000497271.1:p.Leu434=
ENST00000679938.1:c.988T>C ENSP00000505518.1:p.Leu330=
ENST00000263642.2:c.1300T>C ENSP00000263642.2:p.Leu434=
NM_022168.3:c.1300T>C NP_071451.2:p.Leu434=
XM_011511628.1:c.583T>C XP_011509930.1:p.Leu195=
XM_011511629.1:c.1300T>C XP_011509931.1:p.Leu434=
NM_022168.4:c.1300T>C MANE Select NP_071451.2:p.Leu434=
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