Canonical Allele Identifier: CA366761632

Gene: RAC1

Linked Data

• ClinVar Variation Id: 1098331
• ClinVar RCV Id: RCV001420220 ; RCV002246381 ; RCV001882529
• dbSNP Id: rs2115201441
• MyVariant Identifiers: chr7:g.6431665C>T (hg19) ; chr7:g.6392034C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6392034C>T , CM000669.2:g.6392034C>T	GRCh38
NC_000007.13:g.6431665C>T , CM000669.1:g.6431665C>T	GRCh37
NC_000007.12:g.6398190C>T	NCBI36
NG_029431.1:g.22540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696666.1:n.406C>T
ENST00000704002.1:c.317C>T	ENSP00000515615.1:p.Pro106Leu
ENST00000704003.1:c.*171C>T	ENSP00000515616.1:n.*171C>T
ENST00000348035.9:c.218C>T MANE Select	ENSP00000258737.7:p.Pro73Leu
ENST00000348035.8:c.218C>T	ENSP00000258737.7:p.Pro73Leu
ENST00000356142.4:c.218C>T	ENSP00000348461.4:p.Pro73Leu
ENST00000488373.5:n.449C>T
ENST00000497741.5:n.234C>T
NM_006908.4:c.218C>T	NP_008839.2:p.Pro73Leu
NM_018890.3:c.218C>T	NP_061485.1:p.Pro73Leu
NM_006908.5:c.218C>T MANE Select	NP_008839.2:p.Pro73Leu
NM_018890.4:c.218C>T	NP_061485.1:p.Pro73Leu