Canonical Allele Identifier: CA366761303

Gene: RAC1

Linked Data

• ClinVar Variation Id: 445283
• ClinVar RCV Id: RCV000514176 ; RCV001550793
• dbSNP Id: rs1554263626
• MyVariant Identifiers: chr7:g.6431637T>G (hg19) ; chr7:g.6392006T>G (hg38)
• PubMed: PMID:28135719 ; PMID:28886345

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6392006T>G , CM000669.2:g.6392006T>G	GRCh38
NC_000007.13:g.6431637T>G , CM000669.1:g.6431637T>G	GRCh37
NC_000007.12:g.6398162T>G	NCBI36
NG_029431.1:g.22512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696666.1:n.378T>G
ENST00000704002.1:c.289T>G	ENSP00000515615.1:p.Tyr97Asp
ENST00000704003.1:c.*143T>G	ENSP00000515616.1:n.*143T>G
ENST00000348035.9:c.190T>G MANE Select	ENSP00000258737.7:p.Tyr64Asp
ENST00000348035.8:c.190T>G	ENSP00000258737.7:p.Tyr64Asp
ENST00000356142.4:c.190T>G	ENSP00000348461.4:p.Tyr64Asp
ENST00000488373.5:n.421T>G
ENST00000497741.5:n.206T>G
NM_006908.4:c.190T>G	NP_008839.2:p.Tyr64Asp
NM_018890.3:c.190T>G	NP_061485.1:p.Tyr64Asp
NM_006908.5:c.190T>G MANE Select	NP_008839.2:p.Tyr64Asp
NM_018890.4:c.190T>G	NP_061485.1:p.Tyr64Asp