Canonical Allele Identifier: CA515989101

Gene: ARAF

Linked Data

• dbSNP Id: rs1266453607
• gnomAD v2: X-47426077-C-T
• gnomAD v3: X-47566678-C-T
• gnomAD v4: X-47566678-C-T
• COSMIC: COSM3561825
• MyVariant Identifiers: chrX:g.47426077C>T (hg19) ; chrX:g.47566678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47566678C>T , CM000685.2:g.47566678C>T	GRCh38
NC_000023.10:g.47426077C>T , CM000685.1:g.47426077C>T	GRCh37
NC_000023.9:g.47311021C>T	NCBI36
NG_016339.1:g.10562C>T
NG_016339.2:g.10562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377045.9:c.597C>T MANE Select	ENSP00000366244.4:p.Phe199=
ENST00000290277.10:c.606C>T	ENSP00000290277.7:p.Phe202=
ENST00000377045.8:c.597C>T	ENSP00000366244.4:p.Phe199=
NM_001256196.1:c.606C>T	NP_001243125.1:p.Phe202=
NM_001654.4:c.597C>T	NP_001645.1:p.Phe199=
XM_006724529.1:c.612C>T	XP_006724592.1:p.Phe204=
XM_011543906.1:c.612C>T	XP_011542208.1:p.Phe204=
XM_011543907.1:c.612C>T	XP_011542209.1:p.Phe204=
XM_011543908.1:c.597C>T	XP_011542210.1:p.Phe199=
XM_011543909.1:c.-61C>T	XP_011542211.1:n.-61C>T
XM_006724529.3:c.612C>T	XP_006724592.1:p.Phe204=
XM_011543906.3:c.612C>T	XP_011542208.1:p.Phe204=
XM_011543908.3:c.597C>T	XP_011542210.1:p.Phe199=
XM_011543909.3:c.-61C>T	XP_011542211.1:n.-61C>T
NM_001654.5:c.597C>T MANE Select	NP_001645.1:p.Phe199=
NM_001256196.2:c.606C>T	NP_001243125.1:p.Phe202=