Canonical Allele Identifier: CA349002739
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163138921G>C (hg19) chr2:g.162282411G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282411G>C , CM000664.2:g.162282411G>C GRCh38
NC_000002.11:g.163138921G>C , CM000664.1:g.163138921G>C GRCh37
NC_000002.10:g.162847167G>C NCBI36
NG_011495.1:g.41119C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*858C>G ENSP00000513228.1:n.*858C>G
ENST00000648433.1:c.1261C>G ENSP00000496816.1:p.Leu421Val
ENST00000649554.1:n.871C>G
ENST00000649979.2:c.1261C>G MANE Select ENSP00000497271.1:p.Leu421Val
ENST00000679938.1:c.949C>G ENSP00000505518.1:p.Leu317Val
ENST00000263642.2:c.1261C>G ENSP00000263642.2:p.Leu421Val
NM_022168.3:c.1261C>G NP_071451.2:p.Leu421Val
XM_011511628.1:c.544C>G XP_011509930.1:p.Leu182Val
XM_011511629.1:c.1261C>G XP_011509931.1:p.Leu421Val
NM_022168.4:c.1261C>G MANE Select NP_071451.2:p.Leu421Val
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