Canonical Allele Identifier: CA16621430

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 422011
• ClinVar RCV Id: RCV000478450
• dbSNP Id: rs782377881
• MyVariant Identifiers: chrX:g.49113258G>T (hg19) ; chrX:g.49256801G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49256801G>T , CM000685.2:g.49256801G>T	GRCh38
NC_000023.10:g.49113258G>T , CM000685.1:g.49113258G>T	GRCh37
NC_000023.9:g.49000202G>T	NCBI36
NG_007392.1:g.13031C>A , LRG_62:g.13031C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.492C>A	ENSP00000365372.2:p.Cys164Ter
ENST00000376207.10:c.597C>A MANE Select	ENSP00000365380.4:p.Cys199Ter
ENST00000455775.7:c.666C>A	ENSP00000396415.3:p.Cys222Ter
ENST00000518685.6:c.597C>A	ENSP00000428952.2:p.Cys199Ter
ENST00000557224.6:c.492C>A	ENSP00000451208.1:p.Cys164Ter
ENST00000651307.1:c.597C>A	ENSP00000498454.1:p.Cys199Ter
ENST00000652559.1:c.450C>A	ENSP00000498236.1:p.Cys150Ter
ENST00000376197.1:c.447C>A	ENSP00000365369.1:p.Cys149Ter
ENST00000376199.6:c.492C>A	ENSP00000365372.2:p.Cys164Ter
ENST00000376207.8:c.597C>A	ENSP00000365380.4:p.Cys199Ter
ENST00000455775.6:c.666C>A	ENSP00000396415.3:p.Cys222Ter
ENST00000518685.5:c.492C>A	ENSP00000428952.1:p.Cys164Ter
ENST00000557224.5:c.492C>A	ENSP00000451208.1:p.Cys164Ter
NM_001114377.1:c.492C>A	NP_001107849.1:p.Cys164Ter
NM_014009.3:c.597C>A , LRG_62t1:c.597C>A	NP_054728.2:p.Cys199Ter
XM_006724533.2:c.666C>A	XP_006724596.2:p.Cys222Ter
XM_011543915.1:c.816C>A	XP_011542217.1:p.Cys272Ter
XM_011543916.1:c.816C>A	XP_011542218.1:p.Cys272Ter
XM_011543917.1:c.615C>A	XP_011542219.1:p.Cys205Ter
XM_011543918.1:c.852C>A	XP_011542220.1:p.Cys284Ter
XM_011543919.1:c.816C>A	XP_011542221.1:p.Cys272Ter
XM_017029567.1:c.543C>A	XP_016885056.1:p.Cys181Ter
NM_001114377.2:c.492C>A	NP_001107849.1:p.Cys164Ter
NM_014009.4:c.597C>A MANE Select	NP_054728.2:p.Cys199Ter