Canonical Allele Identifier: CA349002716
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163138911A>T (hg19) chr2:g.162282401A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282401A>T , CM000664.2:g.162282401A>T GRCh38
NC_000002.11:g.163138911A>T , CM000664.1:g.163138911A>T GRCh37
NC_000002.10:g.162847157A>T NCBI36
NG_011495.1:g.41129T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*868T>A ENSP00000513228.1:n.*868T>A
ENST00000648433.1:c.1271T>A ENSP00000496816.1:p.Leu424Ter
ENST00000649554.1:n.881T>A
ENST00000649979.2:c.1271T>A MANE Select ENSP00000497271.1:p.Leu424Ter
ENST00000679938.1:c.959T>A ENSP00000505518.1:p.Leu320Ter
ENST00000263642.2:c.1271T>A ENSP00000263642.2:p.Leu424Ter
NM_022168.3:c.1271T>A NP_071451.2:p.Leu424Ter
XM_011511628.1:c.554T>A XP_011509930.1:p.Leu185Ter
XM_011511629.1:c.1271T>A XP_011509931.1:p.Leu424Ter
NM_022168.4:c.1271T>A MANE Select NP_071451.2:p.Leu424Ter
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