Canonical Allele Identifier: CA3944480
Gene: RTN4IP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.106621398T>C
GRCh37 chr6:g.107069273T>C
gnomAD v2:
6:107069273 T / C
gnomAD v3:
6:106621398 T / C
gnomAD v4:
chr6-106621398-T-C
Joint Max Group AF 0.59890279 (EAS)
Genomes Max Group AF 0.61698527 (EAS)
Exomes Max Group AF 0.59456777 (EAS)
ClinVar RCV:
RCV001651442
RCV001796639
ClinVar Variation:
1245120
dbSNP:
1870867
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.106621398T>C , CM000668.2:g.106621398T>C GRCh38
NC_000006.11:g.107069273T>C , CM000668.1:g.107069273T>C GRCh37
NC_000006.10:g.107175966T>C NCBI36
NG_047205.1:g.14103A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369063.8:c.495+27A>G MANE Select ENSP00000358059.3:n.495+27A>G
ENST00000369063.7:c.495+27A>G ENSP00000358059.3:n.495+27A>G
ENST00000539449.2:c.495+27A>G ENSP00000444261.1:n.495+27A>G
NM_032730.4:c.495+27A>G NP_116119.2:n.495+27A>G
XM_011536192.1:c.255+27A>G XP_011534494.1:n.255+27A>G
XM_011536193.1:c.195+27A>G XP_011534495.1:n.195+27A>G
NM_001318746.1:c.195+27A>G NP_001305675.1:n.195+27A>G
NM_032730.5:c.495+27A>G MANE Select NP_116119.2:n.495+27A>G
XM_011536192.2:c.255+27A>G XP_011534494.1:n.255+27A>G
XM_017011375.2:c.495+27A>G XP_016866864.1:n.495+27A>G
XM_017011376.2:c.495+27A>G XP_016866865.1:n.495+27A>G
XR_001743693.2:n.1791+27A>G
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