Canonical Allele Identifier: CA10411680

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 1535188
• ClinVar RCV Id: RCV002077654
• dbSNP Id: rs11465478
• ExAC: X:49109570 C / T
• gnomAD v2: X-49109570-C-T
• gnomAD v3: X-49253109-C-T
• gnomAD v4: X-49253109-C-T
• MyVariant Identifiers: chrX:g.49109570C>T (hg19) ; chrX:g.49253109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49253109C>T , CM000685.2:g.49253109C>T	GRCh38
NC_000023.10:g.49109570C>T , CM000685.1:g.49109570C>T	GRCh37
NC_000023.9:g.48996514C>T	NCBI36
NG_007392.1:g.16719G>A , LRG_62:g.16719G>A
NG_021311.2:g.22645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.939+17G>A	ENSP00000365372.2:n.939+17G>A
ENST00000376207.10:c.1044+17G>A MANE Select	ENSP00000365380.4:n.1044+17G>A
ENST00000455775.7:c.1113+17G>A	ENSP00000396415.3:n.1113+17G>A
ENST00000518685.6:c.963+17G>A	ENSP00000428952.2:n.963+17G>A
ENST00000557224.6:c.939+17G>A	ENSP00000451208.1:n.939+17G>A
ENST00000651307.1:c.967+808G>A	ENSP00000498454.1:n.967+808G>A
ENST00000376197.1:c.894+17G>A	ENSP00000365369.1:n.894+17G>A
ENST00000376199.6:c.939+17G>A	ENSP00000365372.2:n.939+17G>A
ENST00000376207.8:c.1044+17G>A	ENSP00000365380.4:n.1044+17G>A
ENST00000455775.6:c.1113+17G>A	ENSP00000396415.3:n.1113+17G>A
ENST00000518685.5:c.939+17G>A	ENSP00000428952.1:n.939+17G>A
ENST00000557224.5:c.939+17G>A	ENSP00000451208.1:n.939+17G>A
NM_001114377.1:c.939+17G>A	NP_001107849.1:n.939+17G>A
NM_014009.3:c.1044+17G>A , LRG_62t1:c.1044+17G>A	NP_054728.2:n.1044+17G>A
XM_006724533.2:c.1113+17G>A	XP_006724596.2:n.1113+17G>A
XM_011543915.1:c.1263+17G>A	XP_011542217.1:n.1263+17G>A
XM_011543916.1:c.1263+17G>A	XP_011542218.1:n.1263+17G>A
XM_011543917.1:c.1062+17G>A	XP_011542219.1:n.1062+17G>A
XM_011543918.1:c.1299+17G>A	XP_011542220.1:n.1299+17G>A
XM_011543919.1:c.1263+17G>A	XP_011542221.1:n.1263+17G>A
XM_017029567.1:c.990+17G>A	XP_016885056.1:n.990+17G>A
NM_001114377.2:c.939+17G>A	NP_001107849.1:n.939+17G>A
NM_014009.4:c.1044+17G>A MANE Select	NP_054728.2:n.1044+17G>A