Canonical Allele Identifier: CA515989200
Gene: ARAF HGNC NCBI

Linked Data

dbSNP Id: rs1603044817
gnomAD v3: X-47566732-C-T
gnomAD v4: X-47566732-C-T
MyVariant Identifiers: chrX:g.47426131C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47566732C>T , CM000685.2:g.47566732C>T GRCh38
NC_000023.10:g.47426131C>T , CM000685.1:g.47426131C>T GRCh37
NC_000023.9:g.47311075C>T NCBI36
NG_016339.1:g.10616C>T
NG_016339.2:g.10616C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377045.9:c.651C>T MANE Select ENSP00000366244.4:p.Asn217=
ENST00000290277.10:c.660C>T ENSP00000290277.7:p.Asn220=
ENST00000377045.8:c.651C>T ENSP00000366244.4:p.Asn217=
NM_001256196.1:c.660C>T NP_001243125.1:p.Asn220=
NM_001654.4:c.651C>T NP_001645.1:p.Asn217=
XM_006724529.1:c.666C>T XP_006724592.1:p.Asn222=
XM_011543906.1:c.666C>T XP_011542208.1:p.Asn222=
XM_011543907.1:c.666C>T XP_011542209.1:p.Asn222=
XM_011543908.1:c.651C>T XP_011542210.1:p.Asn217=
XM_011543909.1:c.-7C>T XP_011542211.1:n.-7C>T
XM_006724529.3:c.666C>T XP_006724592.1:p.Asn222=
XM_011543906.3:c.666C>T XP_011542208.1:p.Asn222=
XM_011543908.3:c.651C>T XP_011542210.1:p.Asn217=
XM_011543909.3:c.-7C>T XP_011542211.1:n.-7C>T
NM_001654.5:c.651C>T MANE Select NP_001645.1:p.Asn217=
NM_001256196.2:c.660C>T NP_001243125.1:p.Asn220=