Canonical Allele Identifier: CA366761301

Gene: RAC1

Linked Data

• ClinVar Variation Id: 2431922
• ClinVar RCV Id: RCV003142505
• MyVariant Identifiers: chr7:g.6431637T>C (hg19) ; chr7:g.6392006T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696666.1:n.378T>C
ENST00000704002.1:c.289T>C	ENSP00000515615.1:p.Tyr97His
ENST00000704003.1:c.*143T>C	ENSP00000515616.1:n.*143T>C
ENST00000348035.9:c.190T>C MANE Select	ENSP00000258737.7:p.Tyr64His
ENST00000348035.8:c.190T>C	ENSP00000258737.7:p.Tyr64His
ENST00000356142.4:c.190T>C	ENSP00000348461.4:p.Tyr64His
ENST00000488373.5:n.421T>C
ENST00000497741.5:n.206T>C
NM_006908.4:c.190T>C	NP_008839.2:p.Tyr64His
NM_018890.3:c.190T>C	NP_061485.1:p.Tyr64His
NM_006908.5:c.190T>C MANE Select	NP_008839.2:p.Tyr64His
NM_018890.4:c.190T>C	NP_061485.1:p.Tyr64His