Canonical Allele Identifier: CA205870
Community Standard Title: NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile)
Gene: ARHGEF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136732149C>T , CM000685.2:g.136732149C>T GRCh38
NC_000023.10:g.135814308C>T , CM000685.1:g.135814308C>T GRCh37
NC_000023.9:g.135641974C>T NCBI36
NG_008873.1:g.54196G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004840.3:c.685G>A MANE Select NP_004831.1:p.Val229Ile
ENST00000250617.7:c.685G>A MANE Select ENSP00000250617.6:p.Val229Ile
NM_001306177.1:c.223G>A NP_001293106.1:p.Val75Ile
NM_001306177.2:c.223G>A NP_001293106.1:p.Val75Ile
NM_004840.2:c.685G>A NP_004831.1:p.Val229Ile
ENST00000250617.6:c.685G>A ENSP00000250617.6:p.Val229Ile
ENST00000370620.5:c.223G>A ENSP00000359654.1:p.Val75Ile
ENST00000370622.5:c.223G>A ENSP00000359656.1:p.Val75Ile
XM_005262499.2:c.685G>A XP_005262556.1:p.Val229Ile
XM_005262499.3:c.685G>A XP_005262556.1:p.Val229Ile
XM_011531412.1:c.766G>A XP_011529714.1:p.Val256Ile
XM_011531412.3:c.766G>A XP_011529714.1:p.Val256Ile
XM_011531413.1:c.685G>A XP_011529715.1:p.Val229Ile
XM_011531413.2:c.685G>A XP_011529715.1:p.Val229Ile
XM_011531414.1:c.685G>A XP_011529716.1:p.Val229Ile
XM_011531414.2:c.685G>A XP_011529716.1:p.Val229Ile
XM_011531415.1:c.595G>A XP_011529717.1:p.Val199Ile
XM_011531415.3:c.595G>A XP_011529717.1:p.Val199Ile
XM_011531416.1:c.304G>A XP_011529718.1:p.Val102Ile
XM_011531416.3:c.304G>A XP_011529718.1:p.Val102Ile
XM_011531417.1:c.223G>A XP_011529719.1:p.Val75Ile
XM_017029975.2:c.766G>A XP_016885464.1:p.Val256Ile