Canonical Allele Identifier: CA8843173

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 1030364
• ClinVar RCV Id: RCV001331895
• dbSNP Id: rs201139992
• ExAC: 17:79826711 T / C
• gnomAD v2: 17-79826711-T-C
• gnomAD v3: 17-81868835-T-C
• gnomAD v4: 17-81868835-T-C
• MyVariant Identifiers: chr17:g.79826711T>C (hg19) ; chr17:g.79826711_79826719delinsCCGTCCGTC (hg19) ; chr17:g.81868835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868835T>C , CM000679.2:g.81868835T>C	GRCh38
NC_000017.10:g.79826711T>C , CM000679.1:g.79826711T>C	GRCh37
NC_000017.9:g.77420000T>C	NCBI36
NG_034210.1:g.7572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*41A>G MANE Select	ENSP00000269321.7:n.*41A>G
ENST00000269321.11:c.*41A>G	ENSP00000269321.7:n.*41A>G
ENST00000400721.8:c.*41A>G	ENSP00000383556.4:n.*41A>G
ENST00000541078.6:c.*41A>G	ENSP00000441348.2:n.*41A>G
ENST00000579121.5:c.502+154A>G	ENSP00000462960.1:n.502+154A>G
ENST00000580685.5:c.*41A>G	ENSP00000464205.1:n.*41A>G
ENST00000581876.5:c.*41A>G	ENSP00000461956.1:n.*41A>G
ENST00000583868.5:c.544A>G	ENSP00000462209.1:p.Thr182Ala
ENST00000584461.5:c.502+154A>G	ENSP00000463939.1:n.502+154A>G
NM_001185077.2:c.*41A>G	NP_001172006.1:n.*41A>G
NM_001185078.2:c.*41A>G	NP_001172007.1:n.*41A>G
NM_001301240.1:c.502+154A>G	NP_001288169.1:n.502+154A>G
NM_001301241.1:c.502+154A>G	NP_001288170.1:n.502+154A>G
NM_001301242.1:c.544A>G	NP_001288171.1:p.Thr182Ala
NM_001301243.1:c.*41A>G	NP_001288172.1:n.*41A>G
NM_004309.5:c.*41A>G	NP_004300.1:n.*41A>G
NR_125441.1:n.715A>G
XM_011523574.1:c.*41A>G	XP_011521876.1:n.*41A>G
NM_004309.6:c.*41A>G MANE Select	NP_004300.1:n.*41A>G
NM_001185077.3:c.*41A>G	NP_001172006.1:n.*41A>G
NM_001185078.3:c.*41A>G	NP_001172007.1:n.*41A>G
NM_001301240.2:c.502+154A>G	NP_001288169.1:n.502+154A>G
NM_001301241.2:c.502+154A>G	NP_001288170.1:n.502+154A>G
NM_001301242.2:c.544A>G	NP_001288171.1:p.Thr182Ala
NM_001301243.2:c.*41A>G	NP_001288172.1:n.*41A>G
NR_125441.2:n.646A>G