Canonical Allele Identifier: CA412948797

Gene: FOXP3

Linked Data

• dbSNP Id: rs1557115601
• gnomAD v2: X-49108166-G-A
• gnomAD v4: X-49251705-G-A
• MyVariant Identifiers: chrX:g.49108166G>A (hg19) ; chrX:g.49251705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251705G>A , CM000685.2:g.49251705G>A	GRCh38
NC_000023.10:g.49108166G>A , CM000685.1:g.49108166G>A	GRCh37
NC_000023.9:g.48995110G>A	NCBI36
NG_007392.1:g.18123C>T , LRG_62:g.18123C>T
NG_021311.2:g.21241G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.1000C>T	ENSP00000365372.2:p.Arg334Cys
ENST00000376207.10:c.1105C>T MANE Select	ENSP00000365380.4:p.Arg369Cys
ENST00000455775.7:c.1174C>T	ENSP00000396415.3:p.Arg392Cys
ENST00000518685.6:c.1024C>T	ENSP00000428952.2:p.Arg342Cys
ENST00000557224.6:c.1000C>T	ENSP00000451208.1:p.Arg334Cys
ENST00000651307.1:c.*20C>T	ENSP00000498454.1:n.*20C>T
ENST00000376197.1:c.955C>T	ENSP00000365369.1:p.Arg319Cys
ENST00000376199.6:c.1000C>T	ENSP00000365372.2:p.Arg334Cys
ENST00000376207.8:c.1105C>T	ENSP00000365380.4:p.Arg369Cys
ENST00000455775.6:c.1174C>T	ENSP00000396415.3:p.Arg392Cys
ENST00000518685.5:c.1000C>T	ENSP00000428952.1:p.Arg334Cys
ENST00000557224.5:c.1000C>T	ENSP00000451208.1:p.Arg334Cys
NM_001114377.1:c.1000C>T	NP_001107849.1:p.Arg334Cys
NM_014009.3:c.1105C>T , LRG_62t1:c.1105C>T	NP_054728.2:p.Arg369Cys
XM_006724533.2:c.1174C>T	XP_006724596.2:p.Arg392Cys
XM_011543915.1:c.1324C>T	XP_011542217.1:p.Arg442Cys
XM_011543916.1:c.1324C>T	XP_011542218.1:p.Arg442Cys
XM_011543917.1:c.1123C>T	XP_011542219.1:p.Arg375Cys
XM_011543918.1:c.1360C>T	XP_011542220.1:p.Arg454Cys
XM_011543919.1:c.1324C>T	XP_011542221.1:p.Arg442Cys
XM_017029567.1:c.1051C>T	XP_016885056.1:p.Arg351Cys
NM_001114377.2:c.1000C>T	NP_001107849.1:p.Arg334Cys
NM_014009.4:c.1105C>T MANE Select	NP_054728.2:p.Arg369Cys