Canonical Allele Identifier: CA366760930

Gene: RAC1

Linked Data

• ClinVar Variation Id: 445285
• ClinVar RCV Id: RCV000515028 ; RCV003150251
• dbSNP Id: rs1554263625
• MyVariant Identifiers: chr7:g.6431598G>C (hg19) ; chr7:g.6391967G>C (hg38)
• PubMed: PMID:28886345

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6391967G>C , CM000669.2:g.6391967G>C	GRCh38
NC_000007.13:g.6431598G>C , CM000669.1:g.6431598G>C	GRCh37
NC_000007.12:g.6398123G>C	NCBI36
NG_029431.1:g.22473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696666.1:n.339G>C
ENST00000704002.1:c.250G>C	ENSP00000515615.1:p.Val84Leu
ENST00000704003.1:c.*104G>C	ENSP00000515616.1:n.*104G>C
ENST00000348035.9:c.151G>C MANE Select	ENSP00000258737.7:p.Val51Leu
ENST00000348035.8:c.151G>C	ENSP00000258737.7:p.Val51Leu
ENST00000356142.4:c.151G>C	ENSP00000348461.4:p.Val51Leu
ENST00000488373.5:n.382G>C
ENST00000497741.5:n.167G>C
NM_006908.4:c.151G>C	NP_008839.2:p.Val51Leu
NM_018890.3:c.151G>C	NP_061485.1:p.Val51Leu
NM_006908.5:c.151G>C MANE Select	NP_008839.2:p.Val51Leu
NM_018890.4:c.151G>C	NP_061485.1:p.Val51Leu