Canonical Allele Identifier: CA8843126

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 915863
• ClinVar RCV Id: RCV001171353 ; RCV002483934 ; RCV003908425
• dbSNP Id: rs189865523
• ExAC: 17:79826509 C / T
• gnomAD v2: 17-79826509-C-T
• gnomAD v3: 17-81868633-C-T
• gnomAD v4: 17-81868633-C-T
• MyVariant Identifiers: chr17:g.79826509C>T (hg19) ; chr17:g.81868633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868633C>T , CM000679.2:g.81868633C>T	GRCh38
NC_000017.10:g.79826509C>T , CM000679.1:g.79826509C>T	GRCh37
NC_000017.9:g.77419798C>T	NCBI36
NG_034210.1:g.7774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*243G>A MANE Select	ENSP00000269321.7:n.*243G>A
ENST00000269321.11:c.*243G>A	ENSP00000269321.7:n.*243G>A
ENST00000400721.8:c.*243G>A	ENSP00000383556.4:n.*243G>A
ENST00000541078.6:c.*243G>A	ENSP00000441348.2:n.*243G>A
ENST00000579121.5:c.503-49G>A	ENSP00000462960.1:n.503-49G>A
ENST00000580685.5:c.*243G>A	ENSP00000464205.1:n.*243G>A
ENST00000581876.5:c.*243G>A	ENSP00000461956.1:n.*243G>A
ENST00000583868.5:c.746G>A	ENSP00000462209.1:p.Gly249Glu
ENST00000584461.5:c.503-49G>A	ENSP00000463939.1:n.503-49G>A
NM_001185077.2:c.*243G>A	NP_001172006.1:n.*243G>A
NM_001185078.2:c.*243G>A	NP_001172007.1:n.*243G>A
NM_001301240.1:c.503-49G>A	NP_001288169.1:n.503-49G>A
NM_001301241.1:c.503-49G>A	NP_001288170.1:n.503-49G>A
NM_001301242.1:c.746G>A	NP_001288171.1:p.Gly249Glu
NM_001301243.1:c.*243G>A	NP_001288172.1:n.*243G>A
NM_004309.5:c.*243G>A	NP_004300.1:n.*243G>A
NR_125441.1:n.917G>A
XM_011523574.1:c.*243G>A	XP_011521876.1:n.*243G>A
NM_004309.6:c.*243G>A MANE Select	NP_004300.1:n.*243G>A
NM_001185077.3:c.*243G>A	NP_001172006.1:n.*243G>A
NM_001185078.3:c.*243G>A	NP_001172007.1:n.*243G>A
NM_001301240.2:c.503-49G>A	NP_001288169.1:n.503-49G>A
NM_001301241.2:c.503-49G>A	NP_001288170.1:n.503-49G>A
NM_001301242.2:c.746G>A	NP_001288171.1:p.Gly249Glu
NM_001301243.2:c.*243G>A	NP_001288172.1:n.*243G>A
NR_125441.2:n.848G>A