Canonical Allele Identifier: CA10528261

Gene: ARHGEF6

Linked Data

• ClinVar Variation Id: 514426
• ClinVar RCV Id: RCV000601982
• dbSNP Id: rs755657383
• ExAC: X:135757258 G / A
• gnomAD v2: X-135757258-G-A
• gnomAD v3: X-136675099-G-A
• gnomAD v4: X-136675099-G-A
• MyVariant Identifiers: chrX:g.135757258G>A (hg19) ; chrX:g.136675099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136675099G>A , CM000685.2:g.136675099G>A	GRCh38
NC_000023.10:g.135757258G>A , CM000685.1:g.135757258G>A	GRCh37
NC_000023.9:g.135584924G>A	NCBI36
NG_008873.1:g.111246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250617.7:c.1946-3C>T MANE Select	ENSP00000250617.6:n.1946-3C>T
ENST00000250617.6:c.1946-3C>T	ENSP00000250617.6:n.1946-3C>T
ENST00000370620.5:c.1484-3C>T	ENSP00000359654.1:n.1484-3C>T
ENST00000370622.5:c.1484-3C>T	ENSP00000359656.1:n.1484-3C>T
NM_001306177.1:c.1484-3C>T	NP_001293106.1:n.1484-3C>T
NM_004840.2:c.1946-3C>T	NP_004831.1:n.1946-3C>T
XM_005262499.2:c.1799-3C>T	XP_005262556.1:n.1799-3C>T
XM_011531412.1:c.2027-3C>T	XP_011529714.1:n.2027-3C>T
XM_011531413.1:c.1958-3C>T	XP_011529715.1:n.1958-3C>T
XM_011531414.1:c.1937-3C>T	XP_011529716.1:n.1937-3C>T
XM_011531415.1:c.1856-3C>T	XP_011529717.1:n.1856-3C>T
XM_011531416.1:c.1565-3C>T	XP_011529718.1:n.1565-3C>T
XM_011531417.1:c.1496-3C>T	XP_011529719.1:n.1496-3C>T
XM_005262499.3:c.1799-3C>T	XP_005262556.1:n.1799-3C>T
XM_011531412.3:c.2027-3C>T	XP_011529714.1:n.2027-3C>T
XM_011531413.2:c.1958-3C>T	XP_011529715.1:n.1958-3C>T
XM_011531414.2:c.1937-3C>T	XP_011529716.1:n.1937-3C>T
XM_011531415.3:c.1856-3C>T	XP_011529717.1:n.1856-3C>T
XM_011531416.3:c.1565-3C>T	XP_011529718.1:n.1565-3C>T
XM_017029975.2:c.2039-3C>T	XP_016885464.1:n.2039-3C>T
NM_004840.3:c.1946-3C>T MANE Select	NP_004831.1:n.1946-3C>T
NM_001306177.2:c.1484-3C>T	NP_001293106.1:n.1484-3C>T