Canonical Allele Identifier: CA236471776
Gene: RAPGEF3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47748635C>T , CM000674.2:g.47748635C>T GRCh38
NC_000012.11:g.48142418C>T , CM000674.1:g.48142418C>T GRCh37
NC_000012.10:g.46428685C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449771.7:c.1155-93G>A MANE Select ENSP00000395708.2:n.1155-93G>A
ENST00000389212.7:c.1155-93G>A ENSP00000373864.3:n.1155-93G>A
ENST00000395358.7:c.1155-93G>A ENSP00000378764.3:n.1155-93G>A
ENST00000405493.6:c.1029-93G>A ENSP00000384521.2:n.1029-93G>A
ENST00000449771.6:c.1155-93G>A ENSP00000395708.2:n.1155-93G>A
ENST00000479866.5:n.2078G>A
ENST00000482843.5:n.1556G>A
ENST00000494764.1:n.278G>A
ENST00000495465.6:c.599-93G>A ENSP00000449818.1:n.599-93G>A
ENST00000547856.5:c.*463-93G>A ENSP00000449905.1:n.*463-93G>A
ENST00000548919.5:c.1029-93G>A ENSP00000448480.1:n.1029-93G>A
ENST00000549151.5:c.1029-93G>A ENSP00000448619.1:n.1029-93G>A
NM_001098531.2:c.1155-93G>A NP_001092001.1:n.1155-93G>A
NM_001098532.2:c.1029-93G>A NP_001092002.1:n.1029-93G>A
NM_006105.5:c.1029-93G>A NP_006096.2:n.1029-93G>A
XM_011537751.1:c.1236-93G>A XP_011536053.1:n.1236-93G>A
XM_011537752.1:c.1200-93G>A XP_011536054.1:n.1200-93G>A
XM_011537753.1:c.1191-93G>A XP_011536055.1:n.1191-93G>A
XM_011537754.1:c.1236-93G>A XP_011536056.1:n.1236-93G>A
XM_011537755.1:c.1074-93G>A XP_011536057.1:n.1074-93G>A
XM_011537756.1:c.1191-93G>A XP_011536058.1:n.1191-93G>A
XM_011537757.1:c.1236-93G>A XP_011536059.1:n.1236-93G>A
XM_011537758.1:c.723-93G>A XP_011536060.1:n.723-93G>A
XM_011537759.1:c.1236-93G>A XP_011536061.1:n.1236-93G>A
XR_944480.1:n.1373-93G>A
XM_005268571.3:c.-96-93G>A XP_005268628.1:n.-96-93G>A
XM_011537752.2:c.1200-93G>A XP_011536054.1:n.1200-93G>A
XM_011537758.2:c.723-93G>A XP_011536060.1:n.723-93G>A
XM_017018688.2:c.1200-93G>A XP_016874177.1:n.1200-93G>A
XM_024448795.1:c.-189G>A XP_024304563.1:n.-189G>A
XR_001748550.2:n.1524-93G>A
XR_001748551.2:n.1524-93G>A
XR_002957282.1:n.1469-93G>A
NM_001098531.3:c.1155-93G>A NP_001092001.1:n.1155-93G>A
NM_001098531.4:c.1155-93G>A MANE Select NP_001092001.2:n.1155-93G>A