Canonical Allele Identifier: CA10398061

Gene: ARAF

Linked Data

• ClinVar Variation Id: 2492782
• ClinVar RCV Id: RCV004280538
• dbSNP Id: rs368024349
• ExAC: X:47426176 C / G
• gnomAD v2: X-47426176-C-G
• gnomAD v4: X-47566777-C-G
• MyVariant Identifiers: chrX:g.47426176C>G (hg19) ; chrX:g.47566777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47566777C>G , CM000685.2:g.47566777C>G	GRCh38
NC_000023.10:g.47426176C>G , CM000685.1:g.47426176C>G	GRCh37
NC_000023.9:g.47311120C>G	NCBI36
NG_016339.1:g.10661C>G
NG_016339.2:g.10661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377045.9:c.696C>G MANE Select	ENSP00000366244.4:p.Ile232Met
ENST00000290277.10:c.705C>G	ENSP00000290277.7:p.Ile235Met
ENST00000377045.8:c.696C>G	ENSP00000366244.4:p.Ile232Met
NM_001256196.1:c.705C>G	NP_001243125.1:p.Ile235Met
NM_001654.4:c.696C>G	NP_001645.1:p.Ile232Met
XM_006724529.1:c.711C>G	XP_006724592.1:p.Ile237Met
XM_011543906.1:c.711C>G	XP_011542208.1:p.Ile237Met
XM_011543907.1:c.711C>G	XP_011542209.1:p.Ile237Met
XM_011543908.1:c.696C>G	XP_011542210.1:p.Ile232Met
XM_011543909.1:c.39C>G	XP_011542211.1:p.Ile13Met
XM_006724529.3:c.711C>G	XP_006724592.1:p.Ile237Met
XM_011543906.3:c.711C>G	XP_011542208.1:p.Ile237Met
XM_011543908.3:c.696C>G	XP_011542210.1:p.Ile232Met
XM_011543909.3:c.39C>G	XP_011542211.1:p.Ile13Met
NM_001654.5:c.696C>G MANE Select	NP_001645.1:p.Ile232Met
NM_001256196.2:c.705C>G	NP_001243125.1:p.Ile235Met