Canonical Allele Identifier: CA59652371
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369620
ClinVar RCV Id: RCV001870724
dbSNP Id: rs958493507
gnomAD v2: 2-163123984-C-G
gnomAD v3: 2-162267474-C-G
gnomAD v4: 2-162267474-C-G
MyVariant Identifiers: chr2:g.163123984C>G (hg19) chr2:g.162267474C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267474C>G , CM000664.2:g.162267474C>G GRCh38
NC_000002.11:g.163123984C>G , CM000664.1:g.163123984C>G GRCh37
NC_000002.10:g.162832230C>G NCBI36
NG_011495.1:g.56056G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*2495+5G>C ENSP00000513228.1:n.*2495+5G>C
ENST00000648433.1:c.2781+5G>C ENSP00000496816.1:n.2781+5G>C
ENST00000649426.1:n.659+5G>C
ENST00000649554.1:n.2508+5G>C
ENST00000649979.2:c.2898+5G>C MANE Select ENSP00000497271.1:n.2898+5G>C
ENST00000679938.1:c.2586+5G>C ENSP00000505518.1:n.2586+5G>C
ENST00000263642.2:c.2898+5G>C ENSP00000263642.2:n.2898+5G>C
NM_022168.3:c.2898+5G>C NP_071451.2:n.2898+5G>C
XM_011511628.1:c.2181+5G>C XP_011509930.1:n.2181+5G>C
NM_022168.4:c.2898+5G>C MANE Select NP_071451.2:n.2898+5G>C
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