Canonical Allele Identifier: CA8843207

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs764941554
• ExAC: 17:79826828 C / T
• gnomAD v2: 17-79826828-C-T
• gnomAD v4: 17-81868952-C-T
• COSMIC: COSM5015535
• MyVariant Identifiers: chr17:g.79826828C>T (hg19) ; chr17:g.81868952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868952C>T , CM000679.2:g.81868952C>T	GRCh38
NC_000017.10:g.79826828C>T , CM000679.1:g.79826828C>T	GRCh37
NC_000017.9:g.77420117C>T	NCBI36
NG_034210.1:g.7455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.539G>A MANE Select	ENSP00000269321.7:p.Arg180His
ENST00000269321.11:c.539G>A	ENSP00000269321.7:p.Arg180His
ENST00000400721.8:c.416-9G>A	ENSP00000383556.4:n.416-9G>A
ENST00000541078.6:c.539G>A	ENSP00000441348.2:p.Arg180His
ENST00000579121.5:c.502+37G>A	ENSP00000462960.1:n.502+37G>A
ENST00000580033.5:c.*183G>A	ENSP00000463530.1:n.*183G>A
ENST00000580685.5:c.539G>A	ENSP00000464205.1:p.Arg180His
ENST00000581876.5:c.314G>A	ENSP00000461956.1:p.Arg105His
ENST00000582984.5:n.741G>A
ENST00000583868.5:c.436-9G>A	ENSP00000462209.1:n.436-9G>A
ENST00000584461.5:c.502+37G>A	ENSP00000463939.1:n.502+37G>A
NM_001185077.2:c.539G>A	NP_001172006.1:p.Arg180His
NM_001185078.2:c.416-9G>A	NP_001172007.1:n.416-9G>A
NM_001301240.1:c.502+37G>A	NP_001288169.1:n.502+37G>A
NM_001301241.1:c.502+37G>A	NP_001288170.1:n.502+37G>A
NM_001301242.1:c.436-9G>A	NP_001288171.1:n.436-9G>A
NM_001301243.1:c.674G>A	NP_001288172.1:p.Arg225His
NM_004309.5:c.539G>A	NP_004300.1:p.Arg180His
NR_125441.1:n.598G>A
XM_011523574.1:c.674G>A	XP_011521876.1:p.Arg225His
NM_004309.6:c.539G>A MANE Select	NP_004300.1:p.Arg180His
NM_001185077.3:c.539G>A	NP_001172006.1:p.Arg180His
NM_001185078.3:c.416-9G>A	NP_001172007.1:n.416-9G>A
NM_001301240.2:c.502+37G>A	NP_001288169.1:n.502+37G>A
NM_001301241.2:c.502+37G>A	NP_001288170.1:n.502+37G>A
NM_001301242.2:c.436-9G>A	NP_001288171.1:n.436-9G>A
NM_001301243.2:c.674G>A	NP_001288172.1:p.Arg225His
NR_125441.2:n.529G>A