Canonical Allele Identifier: CA401524036

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1158960397
• gnomAD v2: 17-79826931-C-A
• gnomAD v4: 17-81869055-C-A
• MyVariant Identifiers: chr17:g.79826931C>A (hg19) ; chr17:g.81869055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869055C>A , CM000679.2:g.81869055C>A	GRCh38
NC_000017.10:g.79826931C>A , CM000679.1:g.79826931C>A	GRCh37
NC_000017.9:g.77420220C>A	NCBI36
NG_034210.1:g.7352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.436G>T MANE Select	ENSP00000269321.7:p.Val146Leu
ENST00000269321.11:c.436G>T	ENSP00000269321.7:p.Val146Leu
ENST00000400721.8:c.416-112G>T	ENSP00000383556.4:n.416-112G>T
ENST00000541078.6:c.436G>T	ENSP00000441348.2:p.Val146Leu
ENST00000578351.1:c.*80G>T	ENSP00000462323.1:n.*80G>T
ENST00000579121.5:c.436G>T	ENSP00000462960.1:p.Val146Leu
ENST00000580033.5:c.*80G>T	ENSP00000463530.1:n.*80G>T
ENST00000580685.5:c.436G>T	ENSP00000464205.1:p.Val146Leu
ENST00000581876.5:c.211G>T	ENSP00000461956.1:p.Val71Leu
ENST00000582984.5:n.638G>T
ENST00000583791.1:n.300G>T
ENST00000583868.5:c.435+1G>T	ENSP00000462209.1:n.435+1G>T
ENST00000584461.5:c.436G>T	ENSP00000463939.1:p.Val146Leu
NM_001185077.2:c.436G>T	NP_001172006.1:p.Val146Leu
NM_001185078.2:c.416-112G>T	NP_001172007.1:n.416-112G>T
NM_001301240.1:c.436G>T	NP_001288169.1:p.Val146Leu
NM_001301241.1:c.436G>T	NP_001288170.1:p.Val146Leu
NM_001301242.1:c.435+1G>T	NP_001288171.1:n.435+1G>T
NM_001301243.1:c.571G>T	NP_001288172.1:p.Val191Leu
NM_004309.5:c.436G>T	NP_004300.1:p.Val146Leu
NR_125441.1:n.495G>T
XM_011523574.1:c.571G>T	XP_011521876.1:p.Val191Leu
NM_004309.6:c.436G>T MANE Select	NP_004300.1:p.Val146Leu
NM_001185077.3:c.436G>T	NP_001172006.1:p.Val146Leu
NM_001185078.3:c.416-112G>T	NP_001172007.1:n.416-112G>T
NM_001301240.2:c.436G>T	NP_001288169.1:p.Val146Leu
NM_001301241.2:c.436G>T	NP_001288170.1:p.Val146Leu
NM_001301242.2:c.435+1G>T	NP_001288171.1:n.435+1G>T
NM_001301243.2:c.571G>T	NP_001288172.1:p.Val191Leu
NR_125441.2:n.426G>T