Canonical Allele Identifier: CA13719036
Gene: IQSEC3 HGNC NCBI
IQSEC3-AS2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110822A>G
GRCh37 chr12:g.219988A>G
gnomAD v2:
12:219988 A / G
gnomAD v3:
12:110822 A / G
gnomAD v4:
chr12-110822-A-G
Joint Max Group AF 0.81279939 (EAS)
Genomes Max Group AF 0.81279939 (EAS)
dbSNP:
2011738
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110822A>G , CM000674.2:g.110822A>G GRCh38
NC_000012.11:g.219988A>G , CM000674.1:g.219988A>G GRCh37
NC_000012.10:g.90249A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000538872.6:c.623+11608A>G (IQSEC3) MANE Select ENSP00000437554.1:n.623+11608A>G
ENST00000382841.2:c.-7+11608A>G (IQSEC3) ENSP00000372292.2:n.-7+11608A>G
ENST00000538872.5:c.623+11608A>G (IQSEC3) ENSP00000437554.1:n.623+11608A>G
NM_001170738.1:c.623+11608A>G (IQSEC3) NP_001164209.1:n.623+11608A>G
NM_015232.1:c.-7+11608A>G (IQSEC3) NP_056047.1:n.-7+11608A>G
XM_011520957.1:c.555-14811A>G (IQSEC3) XP_011519259.1:n.555-14811A>G
XM_011520958.1:c.623+11608A>G (IQSEC3) XP_011519260.1:n.623+11608A>G
XM_011520959.1:c.623+11608A>G (IQSEC3) XP_011519261.1:n.623+11608A>G
XM_011520960.1:c.623+11608A>G (IQSEC3) XP_011519262.1:n.623+11608A>G
XM_011520961.1:c.-7+11608A>G (IQSEC3) XP_011519263.1:n.-7+11608A>G
XR_931511.1:n.710+11608A>G (IQSEC3)
XR_931512.1:n.710+11608A>G (IQSEC3)
XR_931513.1:n.710+11608A>G (IQSEC3)
XR_931533.1:n.308+797T>C (IQSEC3-AS2)
XM_011520958.2:c.623+11608A>G (IQSEC3) XP_011519260.1:n.623+11608A>G
XM_011520959.2:c.623+11608A>G (IQSEC3) XP_011519261.1:n.623+11608A>G
XM_017019310.1:c.623+11608A>G (IQSEC3) XP_016874799.1:n.623+11608A>G
XM_017019311.1:c.623+11608A>G (IQSEC3) XP_016874800.1:n.623+11608A>G
XR_001748706.1:n.712+11608A>G (IQSEC3)
XR_001748707.1:n.710+11608A>G (IQSEC3)
XR_001748708.1:n.406+11608A>G (IQSEC3)
XR_931533.2:n.519+797T>C (IQSEC3-AS2)
NM_001170738.2:c.623+11608A>G (IQSEC3) MANE Select NP_001164209.1:n.623+11608A>G
NM_015232.2:c.-7+11608A>G (IQSEC3) NP_056047.1:n.-7+11608A>G
Search 100 bp 5'
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