Canonical Allele Identifier: CA366760717

Gene: RAC1

Linked Data

• ClinVar Variation Id: 445281
• ClinVar RCV Id: RCV000514438 ; RCV001255401 ; RCV002274050 ; RCV003317250
• gnomAD v4: 7-6391932-A-G
• MyVariant Identifiers: chr7:g.6431563A>G (hg19) ; chr7:g.6391932A>G (hg38)
• PubMed: PMID:27479843 ; PMID:28886345

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6391932A>G , CM000669.2:g.6391932A>G	GRCh38
NC_000007.13:g.6431563A>G , CM000669.1:g.6431563A>G	GRCh37
NC_000007.12:g.6398088A>G	NCBI36
NG_029431.1:g.22438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696666.1:n.304A>G
ENST00000704002.1:c.215A>G	ENSP00000515615.1:p.Asn72Ser
ENST00000704003.1:c.*69A>G	ENSP00000515616.1:n.*69A>G
ENST00000348035.9:c.116A>G MANE Select	ENSP00000258737.7:p.Asn39Ser
ENST00000348035.8:c.116A>G	ENSP00000258737.7:p.Asn39Ser
ENST00000356142.4:c.116A>G	ENSP00000348461.4:p.Asn39Ser
ENST00000488373.5:n.347A>G
ENST00000497741.5:n.132A>G
NM_006908.4:c.116A>G	NP_008839.2:p.Asn39Ser
NM_018890.3:c.116A>G	NP_061485.1:p.Asn39Ser
NM_006908.5:c.116A>G MANE Select	NP_008839.2:p.Asn39Ser
NM_018890.4:c.116A>G	NP_061485.1:p.Asn39Ser