Canonical Allele Identifier: CA6531523

Gene: RAPGEF3

Linked Data

• dbSNP Id: rs2074533
• ExAC: 12:48134695 T / C
• gnomAD v2: 12-48134695-T-C
• gnomAD v3: 12-47740912-T-C
• gnomAD v4: 12-47740912-T-C
• MyVariant Identifiers: chr12:g.48134695T>C (hg19) ; chr12:g.47740912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47740912T>C , CM000674.2:g.47740912T>C	GRCh38
NC_000012.11:g.48134695T>C , CM000674.1:g.48134695T>C	GRCh37
NC_000012.10:g.46420962T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000449771.7:c.2049+3A>G MANE Select	ENSP00000395708.2:n.2049+3A>G
ENST00000389212.7:c.2049+3A>G	ENSP00000373864.3:n.2049+3A>G
ENST00000395360.6:n.1291+3A>G
ENST00000405493.6:c.1923+3A>G	ENSP00000384521.2:n.1923+3A>G
ENST00000449771.6:c.2049+3A>G	ENSP00000395708.2:n.2049+3A>G
ENST00000473777.5:n.520+3A>G
ENST00000479866.5:n.3065+3A>G
ENST00000482843.5:n.2543+3A>G
ENST00000488250.5:n.914+3A>G
ENST00000547856.5:c.*1357+3A>G	ENSP00000449905.1:n.*1357+3A>G
ENST00000548434.1:c.224+3A>G
ENST00000548919.5:c.1776+3A>G	ENSP00000448480.1:n.1776+3A>G
ENST00000549151.5:c.1923+3A>G	ENSP00000448619.1:n.1923+3A>G
NM_001098531.2:c.2049+3A>G	NP_001092001.1:n.2049+3A>G
NM_001098532.2:c.1923+3A>G	NP_001092002.1:n.1923+3A>G
NM_006105.5:c.1923+3A>G	NP_006096.2:n.1923+3A>G
XM_005268571.2:c.765+3A>G	XP_005268628.1:n.765+3A>G
XM_011537751.1:c.2130+3A>G	XP_011536053.1:n.2130+3A>G
XM_011537752.1:c.2094+3A>G	XP_011536054.1:n.2094+3A>G
XM_011537753.1:c.2085+3A>G	XP_011536055.1:n.2085+3A>G
XM_011537754.1:c.1983+3A>G	XP_011536056.1:n.1983+3A>G
XM_011537755.1:c.1968+3A>G	XP_011536057.1:n.1968+3A>G
XM_011537756.1:c.1938+3A>G	XP_011536058.1:n.1938+3A>G
XM_011537757.1:c.2130+3A>G	XP_011536059.1:n.2130+3A>G
XM_011537758.1:c.1617+3A>G	XP_011536060.1:n.1617+3A>G
XR_944480.1:n.2233+3A>G
XM_005268571.3:c.765+3A>G	XP_005268628.1:n.765+3A>G
XM_011537752.2:c.2094+3A>G	XP_011536054.1:n.2094+3A>G
XM_011537758.2:c.1617+3A>G	XP_011536060.1:n.1617+3A>G
XM_024448795.1:c.765+3A>G	XP_024304563.1:n.765+3A>G
XR_001748550.2:n.2418+3A>G
XR_001748551.2:n.2384+3A>G
XR_002957282.1:n.2363+3A>G
NM_001098531.3:c.2049+3A>G	NP_001092001.1:n.2049+3A>G
NM_001098531.4:c.2049+3A>G MANE Select	NP_001092001.2:n.2049+3A>G