Canonical Allele Identifier: CA4600217
Gene: ARHGEF10 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1885635G>C , CM000670.2:g.1885635G>C GRCh38
NC_000008.10:g.1833801G>C , CM000670.1:g.1833801G>C GRCh37
NC_000008.9:g.1821208G>C NCBI36
NG_008480.1:g.66653G>C , LRG_234:g.66653G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349830.8:c.1110G>C MANE Select ENSP00000340297.3:p.Leu370Phe
ENST00000635773.1:c.1638G>C
ENST00000635855.1:c.*1064G>C ENSP00000489726.1:n.*1064G>C
ENST00000349830.7:c.1110G>C ENSP00000340297.3:p.Leu370Phe
ENST00000398560.2:c.378G>C ENSP00000381568.2:p.Leu126Phe
ENST00000398564.5:c.1185G>C ENSP00000381571.1:p.Leu395Phe
ENST00000518288.5:c.1185G>C ENSP00000431012.1:p.Leu395Phe
ENST00000520359.5:c.996G>C ENSP00000427909.1:p.Leu332Phe
ENST00000520972.5:n.806G>C
ENST00000522435.5:c.129G>C ENSP00000427768.1:p.Leu43Phe
ENST00000523711.5:n.834G>C
NM_001308152.1:c.996G>C NP_001295081.1:p.Leu332Phe
NM_001308153.1:c.1185G>C NP_001295082.1:p.Leu395Phe
NM_014629.2:c.1110G>C , LRG_234t1:c.1110G>C NP_055444.2:p.Leu370Phe
NM_014629.3:c.1110G>C NP_055444.2:p.Leu370Phe
XM_005266041.2:c.1113G>C XP_005266098.1:p.Leu371Phe
XM_011534766.1:c.1113G>C XP_011533068.1:p.Leu371Phe
XM_011534767.1:c.993G>C XP_011533069.1:p.Leu331Phe
XM_011534768.1:c.1113G>C XP_011533070.1:p.Leu371Phe
XM_011534769.1:c.1068G>C XP_011533071.1:p.Leu356Phe
XM_011534770.1:c.1113G>C XP_011533072.1:p.Leu371Phe
XM_005266041.4:c.1113G>C XP_005266098.1:p.Leu371Phe
XM_011534767.2:c.993G>C XP_011533069.1:p.Leu331Phe
XM_011534770.2:c.1113G>C XP_011533072.1:p.Leu371Phe
XM_017014003.1:c.1185G>C XP_016869492.1:p.Leu395Phe
XM_024447334.1:c.1113G>C XP_024303102.1:p.Leu371Phe
XM_024447335.1:c.1197G>C XP_024303103.1:p.Leu399Phe
NM_014629.4:c.1110G>C MANE Select NP_055444.2:p.Leu370Phe
NM_001308152.2:c.996G>C NP_001295081.1:p.Leu332Phe
NM_001308153.2:c.1185G>C NP_001295082.1:p.Leu395Phe