Canonical Allele Identifier: CA6258747
Gene: GRIA4 HGNC NCBI
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105933765G>A , CM000673.2:g.105933765G>A GRCh38
NC_000011.9:g.105804491G>A , CM000673.1:g.105804491G>A GRCh37
NC_000011.8:g.105309701G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000525187.6:c.2090G>A ENSP00000432180.1:p.Arg697Gln
ENST00000703743.2:c.2090G>A ENSP00000515457.2:p.Arg697Gln
ENST00000706777.1:c.2090G>A ENSP00000516542.1:p.Arg697Gln
ENST00000282499.10:c.2090G>A MANE Select ENSP00000282499.5:p.Arg697Gln
ENST00000282499.9:c.2090G>A ENSP00000282499.5:p.Arg697Gln
ENST00000393127.6:c.2090G>A ENSP00000376835.2:p.Arg697Gln
ENST00000525187.5:c.2090G>A ENSP00000432180.1:p.Arg697Gln
ENST00000530497.1:c.2090G>A ENSP00000435775.1:p.Arg697Gln
NM_000829.3:c.2090G>A NP_000820.3:p.Arg697Gln
NM_001077243.2:c.2090G>A NP_001070711.2:p.Arg697Gln
NR_046356.1:n.2404G>A
XM_005271518.2:c.2090G>A XP_005271575.1:p.Arg697Gln
XM_006718823.1:c.2090G>A XP_006718886.1:p.Arg697Gln
XM_011542775.1:c.2090G>A XP_011541077.1:p.Arg697Gln
XM_011542776.1:c.1580G>A XP_011541078.1:p.Arg527Gln
XM_011542777.1:c.1580G>A XP_011541079.1:p.Arg527Gln
XR_947825.1:n.2580G>A
XR_947979.1:n.1970-6892C>T
XR_947981.1:n.280-6892C>T
XM_005271518.3:c.2090G>A XP_005271575.1:p.Arg697Gln
XM_006718823.2:c.2090G>A XP_006718886.1:p.Arg697Gln
XM_011542775.2:c.2090G>A XP_011541077.1:p.Arg697Gln
XM_011542776.3:c.1580G>A XP_011541078.1:p.Arg527Gln
XM_011542777.3:c.1580G>A XP_011541079.1:p.Arg527Gln
XM_017017609.1:c.2090G>A XP_016873098.1:p.Arg697Gln
XM_017017610.2:c.2090G>A XP_016873099.1:p.Arg697Gln
XM_017017611.2:c.1580G>A XP_016873100.1:p.Arg527Gln
XR_001747841.1:n.2580G>A
NM_000829.4:c.2090G>A MANE Select NP_000820.4:p.Arg697Gln
NR_046356.2:n.2382G>A
NM_001077243.3:c.2090G>A NP_001070711.3:p.Arg697Gln