Canonical Allele Identifier: CA8843134

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 3051366
• ClinVar RCV Id: RCV003957400
• dbSNP Id: rs754414636
• ExAC: 17:79826584 A / G
• gnomAD v2: 17-79826584-A-G
• gnomAD v3: 17-81868708-A-G
• gnomAD v4: 17-81868708-A-G
• MyVariant Identifiers: chr17:g.79826584A>G (hg19) ; chr17:g.79826584_79826585delinsGG (hg19) ; chr17:g.81868708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868708A>G , CM000679.2:g.81868708A>G	GRCh38
NC_000017.10:g.79826584A>G , CM000679.1:g.79826584A>G	GRCh37
NC_000017.9:g.77419873A>G	NCBI36
NG_034210.1:g.7699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*168T>C MANE Select	ENSP00000269321.7:n.*168T>C
ENST00000269321.11:c.*168T>C	ENSP00000269321.7:n.*168T>C
ENST00000400721.8:c.*168T>C	ENSP00000383556.4:n.*168T>C
ENST00000541078.6:c.*168T>C	ENSP00000441348.2:n.*168T>C
ENST00000579121.5:c.503-124T>C	ENSP00000462960.1:n.503-124T>C
ENST00000580685.5:c.*168T>C	ENSP00000464205.1:n.*168T>C
ENST00000581876.5:c.*168T>C	ENSP00000461956.1:n.*168T>C
ENST00000583868.5:c.671T>C	ENSP00000462209.1:p.Leu224Pro
ENST00000584461.5:c.503-124T>C	ENSP00000463939.1:n.503-124T>C
NM_001185077.2:c.*168T>C	NP_001172006.1:n.*168T>C
NM_001185078.2:c.*168T>C	NP_001172007.1:n.*168T>C
NM_001301240.1:c.503-124T>C	NP_001288169.1:n.503-124T>C
NM_001301241.1:c.503-124T>C	NP_001288170.1:n.503-124T>C
NM_001301242.1:c.671T>C	NP_001288171.1:p.Leu224Pro
NM_001301243.1:c.*168T>C	NP_001288172.1:n.*168T>C
NM_004309.5:c.*168T>C	NP_004300.1:n.*168T>C
NR_125441.1:n.842T>C
XM_011523574.1:c.*168T>C	XP_011521876.1:n.*168T>C
NM_004309.6:c.*168T>C MANE Select	NP_004300.1:n.*168T>C
NM_001185077.3:c.*168T>C	NP_001172006.1:n.*168T>C
NM_001185078.3:c.*168T>C	NP_001172007.1:n.*168T>C
NM_001301240.2:c.503-124T>C	NP_001288169.1:n.503-124T>C
NM_001301241.2:c.503-124T>C	NP_001288170.1:n.503-124T>C
NM_001301242.2:c.671T>C	NP_001288171.1:p.Leu224Pro
NM_001301243.2:c.*168T>C	NP_001288172.1:n.*168T>C
NR_125441.2:n.773T>C