Canonical Allele Identifier: CA401524451

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1441062647
• gnomAD v2: 17-79827097-C-G
• gnomAD v4: 17-81869221-C-G
• MyVariant Identifiers: chr17:g.79827097C>G (hg19) ; chr17:g.81869221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869221C>G , CM000679.2:g.81869221C>G	GRCh38
NC_000017.10:g.79827097C>G , CM000679.1:g.79827097C>G	GRCh37
NC_000017.9:g.77420386C>G	NCBI36
NG_034210.1:g.7186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.367G>C MANE Select	ENSP00000269321.7:p.Val123Leu
ENST00000269321.11:c.367G>C	ENSP00000269321.7:p.Val123Leu
ENST00000400721.8:c.367G>C	ENSP00000383556.4:p.Val123Leu
ENST00000541078.6:c.367G>C	ENSP00000441348.2:p.Val123Leu
ENST00000578351.1:c.*11G>C	ENSP00000462323.1:n.*11G>C
ENST00000579121.5:c.367G>C	ENSP00000462960.1:p.Val123Leu
ENST00000580033.5:c.*11G>C	ENSP00000463530.1:n.*11G>C
ENST00000580685.5:c.367G>C	ENSP00000464205.1:p.Val123Leu
ENST00000581876.5:c.191-146G>C	ENSP00000461956.1:n.191-146G>C
ENST00000582984.5:n.569G>C
ENST00000583111.5:n.519G>C
ENST00000583791.1:n.231G>C
ENST00000583868.5:c.367G>C	ENSP00000462209.1:p.Val123Leu
ENST00000584461.5:c.367G>C	ENSP00000463939.1:p.Val123Leu
NM_001185077.2:c.367G>C	NP_001172006.1:p.Val123Leu
NM_001185078.2:c.367G>C	NP_001172007.1:p.Val123Leu
NM_001301240.1:c.367G>C	NP_001288169.1:p.Val123Leu
NM_001301241.1:c.367G>C	NP_001288170.1:p.Val123Leu
NM_001301242.1:c.367G>C	NP_001288171.1:p.Val123Leu
NM_001301243.1:c.502G>C	NP_001288172.1:p.Val168Leu
NM_004309.5:c.367G>C	NP_004300.1:p.Val123Leu
NR_125441.1:n.426G>C
XM_011523574.1:c.502G>C	XP_011521876.1:p.Val168Leu
NM_004309.6:c.367G>C MANE Select	NP_004300.1:p.Val123Leu
NM_001185077.3:c.367G>C	NP_001172006.1:p.Val123Leu
NM_001185078.3:c.367G>C	NP_001172007.1:p.Val123Leu
NM_001301240.2:c.367G>C	NP_001288169.1:p.Val123Leu
NM_001301241.2:c.367G>C	NP_001288170.1:p.Val123Leu
NM_001301242.2:c.367G>C	NP_001288171.1:p.Val123Leu
NM_001301243.2:c.502G>C	NP_001288172.1:p.Val168Leu
NR_125441.2:n.357G>C