Canonical Allele Identifier: CA429535927
Gene: IFIH1 HGNC NCBI

Linked Data

gnomAD v4: 2-162282376-A-G
MyVariant Identifiers: chr2:g.163138886A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282376A>G , CM000664.2:g.162282376A>G GRCh38
NC_000002.11:g.163138886A>G , CM000664.1:g.163138886A>G GRCh37
NC_000002.10:g.162847132A>G NCBI36
NG_011495.1:g.41154T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*893T>C ENSP00000513228.1:n.*893T>C
ENST00000648433.1:c.1296T>C ENSP00000496816.1:p.Val432=
ENST00000649554.1:n.906T>C
ENST00000649979.2:c.1296T>C MANE Select ENSP00000497271.1:p.Val432=
ENST00000679938.1:c.984T>C ENSP00000505518.1:p.Val328=
ENST00000263642.2:c.1296T>C ENSP00000263642.2:p.Val432=
NM_022168.3:c.1296T>C NP_071451.2:p.Val432=
XM_011511628.1:c.579T>C XP_011509930.1:p.Val193=
XM_011511629.1:c.1296T>C XP_011509931.1:p.Val432=
NM_022168.4:c.1296T>C MANE Select NP_071451.2:p.Val432=
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