Canonical Allele Identifier: CA16602595

Gene: ARAF

Linked Data

• ClinVar Variation Id: 376137
• ClinVar RCV Id: RCV000419218 ; RCV000427514 ; RCV000430187 ; RCV000436910
• dbSNP Id: rs1057519786
• COSMIC: COSM5044705
• MyVariant Identifiers: chrX:g.47426121C>G (hg19) ; chrX:g.47566722C>G (hg38)
• CIViC: CA16602595
• PubMed: PMID:24569458 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47566722C>G , CM000685.2:g.47566722C>G	GRCh38
NC_000023.10:g.47426121C>G , CM000685.1:g.47426121C>G	GRCh37
NC_000023.9:g.47311065C>G	NCBI36
NG_016339.1:g.10606C>G
NG_016339.2:g.10606C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377045.9:c.641C>G MANE Select	ENSP00000366244.4:p.Ser214Cys
ENST00000290277.10:c.650C>G	ENSP00000290277.7:p.Ser217Cys
ENST00000377045.8:c.641C>G	ENSP00000366244.4:p.Ser214Cys
NM_001256196.1:c.650C>G	NP_001243125.1:p.Ser217Cys
NM_001654.4:c.641C>G	NP_001645.1:p.Ser214Cys
XM_006724529.1:c.656C>G	XP_006724592.1:p.Ser219Cys
XM_011543906.1:c.656C>G	XP_011542208.1:p.Ser219Cys
XM_011543907.1:c.656C>G	XP_011542209.1:p.Ser219Cys
XM_011543908.1:c.641C>G	XP_011542210.1:p.Ser214Cys
XM_011543909.1:c.-17C>G	XP_011542211.1:n.-17C>G
XM_006724529.3:c.656C>G	XP_006724592.1:p.Ser219Cys
XM_011543906.3:c.656C>G	XP_011542208.1:p.Ser219Cys
XM_011543908.3:c.641C>G	XP_011542210.1:p.Ser214Cys
XM_011543909.3:c.-17C>G	XP_011542211.1:n.-17C>G
NM_001654.5:c.641C>G MANE Select	NP_001645.1:p.Ser214Cys
NM_001256196.2:c.650C>G	NP_001243125.1:p.Ser217Cys