Canonical Allele Identifier: CA406042379

Gene: ARHGEF1

Linked Data

• ClinVar Variation Id: 2759430
• ClinVar RCV Id: RCV003564745
• MyVariant Identifiers: chr19:g.42392173G>C (hg19) ; chr19:g.41888102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41888102G>C , CM000681.2:g.41888102G>C	GRCh38
NC_000019.9:g.42392173G>C , CM000681.1:g.42392173G>C	GRCh37
NC_000019.8:g.47084013G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599846.6:c.20G>C	ENSP00000470715.1:p.Gly7Ala
ENST00000698932.1:c.20G>C	ENSP00000514042.1:p.Gly7Ala
ENST00000698933.1:c.65G>C	ENSP00000514043.1:p.Gly22Ala
ENST00000698934.1:c.65G>C	ENSP00000514044.1:p.Gly22Ala
ENST00000706938.1:c.20G>C	ENSP00000516658.1:p.Gly7Ala
ENST00000354532.8:c.20G>C MANE Select	ENSP00000346532.3:p.Gly7Ala
ENST00000337665.8:c.65G>C	ENSP00000337261.3:p.Gly22Ala
ENST00000347545.8:c.20G>C	ENSP00000344429.3:p.Gly7Ala
ENST00000354532.7:c.20G>C	ENSP00000346532.2:p.Gly7Ala
ENST00000378152.8:c.65G>C	ENSP00000367394.3:p.Gly22Ala
ENST00000596957.1:n.67-3923G>C
ENST00000599846.5:c.20G>C	ENSP00000470715.1:p.Gly7Ala
ENST00000600274.5:n.146G>C
ENST00000600387.5:n.156G>C
NM_004706.3:c.20G>C	NP_004697.2:p.Gly7Ala
NM_198977.1:c.20G>C	NP_945328.1:p.Gly7Ala
NM_199002.1:c.65G>C	NP_945353.1:p.Gly22Ala
XM_005259386.3:c.65G>C	XP_005259443.1:p.Gly22Ala
XM_005259387.3:c.65G>C	XP_005259444.1:p.Gly22Ala
XM_005259388.2:c.20G>C	XP_005259445.1:p.Gly7Ala
XM_005259389.3:c.65G>C	XP_005259446.1:p.Gly22Ala
XM_005259390.3:c.65G>C	XP_005259447.1:p.Gly22Ala
XM_006723463.2:c.65G>C	XP_006723526.1:p.Gly22Ala
XM_011527468.1:c.65G>C	XP_011525770.1:p.Gly22Ala
NM_004706.4:c.20G>C MANE Select	NP_004697.2:p.Gly7Ala
NM_198977.2:c.20G>C	NP_945328.1:p.Gly7Ala
NM_199002.2:c.65G>C	NP_945353.1:p.Gly22Ala
NM_001396000.1:c.20G>C	NP_001382929.1:p.Gly7Ala
NM_001396002.1:c.20G>C	NP_001382931.1:p.Gly7Ala
NM_001396003.1:c.20G>C	NP_001382932.1:p.Gly7Ala
NM_001396004.1:c.20G>C	NP_001382933.1:p.Gly7Ala
NM_001396006.1:c.20G>C	NP_001382935.1:p.Gly7Ala
NR_173092.1:n.1349G>C
NR_173093.1:n.145G>C