Canonical Allele Identifier: CA16602805

Gene: ARAF

Linked Data

• ClinVar Variation Id: 376366
• ClinVar RCV Id: RCV000417875 ; RCV000429142 ; RCV000435898
• dbSNP Id: rs1057519786
• gnomAD v4: X-47566722-C-T
• COSMIC: COSM612884
• MyVariant Identifiers: chrX:g.47426121C>T (hg19) ; chrX:g.47566722C>T (hg38)
• PubMed: PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000377045.9:c.641C>T MANE Select	ENSP00000366244.4:p.Ser214Phe
ENST00000290277.10:c.650C>T	ENSP00000290277.7:p.Ser217Phe
ENST00000377045.8:c.641C>T	ENSP00000366244.4:p.Ser214Phe
NM_001256196.1:c.650C>T	NP_001243125.1:p.Ser217Phe
NM_001654.4:c.641C>T	NP_001645.1:p.Ser214Phe
XM_006724529.1:c.656C>T	XP_006724592.1:p.Ser219Phe
XM_011543906.1:c.656C>T	XP_011542208.1:p.Ser219Phe
XM_011543907.1:c.656C>T	XP_011542209.1:p.Ser219Phe
XM_011543908.1:c.641C>T	XP_011542210.1:p.Ser214Phe
XM_011543909.1:c.-17C>T	XP_011542211.1:n.-17C>T
XM_006724529.3:c.656C>T	XP_006724592.1:p.Ser219Phe
XM_011543906.3:c.656C>T	XP_011542208.1:p.Ser219Phe
XM_011543908.3:c.641C>T	XP_011542210.1:p.Ser214Phe
XM_011543909.3:c.-17C>T	XP_011542211.1:n.-17C>T
NM_001654.5:c.641C>T MANE Select	NP_001645.1:p.Ser214Phe
NM_001256196.2:c.650C>T	NP_001243125.1:p.Ser217Phe