Canonical Allele Identifier: CA1303149232
Gene: IFIH1 HGNC NCBI

Linked Data

dbSNP Id: rs1682823057
gnomAD v4: 2-162282267-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282267C>T , CM000664.2:g.162282267C>T GRCh38
NC_000002.11:g.163138777C>T , CM000664.1:g.163138777C>T GRCh37
NC_000002.10:g.162847023C>T NCBI36
NG_011495.1:g.41263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+99G>A ENSP00000513228.1:n.*903+99G>A
ENST00000648433.1:c.1306+99G>A ENSP00000496816.1:n.1306+99G>A
ENST00000649554.1:n.916+99G>A
ENST00000649979.2:c.1306+99G>A MANE Select ENSP00000497271.1:n.1306+99G>A
ENST00000679938.1:c.994+99G>A ENSP00000505518.1:n.994+99G>A
ENST00000263642.2:c.1306+99G>A ENSP00000263642.2:n.1306+99G>A
NM_022168.3:c.1306+99G>A NP_071451.2:n.1306+99G>A
XM_011511628.1:c.589+99G>A XP_011509930.1:n.589+99G>A
XM_011511629.1:c.1306+99G>A XP_011509931.1:n.1306+99G>A
NM_022168.4:c.1306+99G>A MANE Select NP_071451.2:n.1306+99G>A
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