Canonical Allele Identifier: CA412950947

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255472-G-T
• MyVariant Identifiers: chrX:g.49111933G>T (hg19) ; chrX:g.49255472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255472G>T , CM000685.2:g.49255472G>T	GRCh38
NC_000023.10:g.49111933G>T , CM000685.1:g.49111933G>T	GRCh37
NC_000023.9:g.48998877G>T	NCBI36
NG_007392.1:g.14356C>A , LRG_62:g.14356C>A
NG_021311.2:g.25008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.668C>A	ENSP00000365372.2:p.Ala223Asp
ENST00000376207.10:c.773C>A MANE Select	ENSP00000365380.4:p.Ala258Asp
ENST00000455775.7:c.842C>A	ENSP00000396415.3:p.Ala281Asp
ENST00000518685.6:c.735+243C>A	ENSP00000428952.2:n.735+243C>A
ENST00000557224.6:c.668C>A	ENSP00000451208.1:p.Ala223Asp
ENST00000651307.1:c.773C>A	ENSP00000498454.1:p.Ala258Asp
ENST00000376197.1:c.623C>A	ENSP00000365369.1:p.Ala208Asp
ENST00000376199.6:c.668C>A	ENSP00000365372.2:p.Ala223Asp
ENST00000376207.8:c.773C>A	ENSP00000365380.4:p.Ala258Asp
ENST00000455775.6:c.842C>A	ENSP00000396415.3:p.Ala281Asp
ENST00000518685.5:c.668C>A	ENSP00000428952.1:p.Ala223Asp
ENST00000557224.5:c.668C>A	ENSP00000451208.1:p.Ala223Asp
NM_001114377.1:c.668C>A	NP_001107849.1:p.Ala223Asp
NM_014009.3:c.773C>A , LRG_62t1:c.773C>A	NP_054728.2:p.Ala258Asp
XM_006724533.2:c.842C>A	XP_006724596.2:p.Ala281Asp
XM_011543915.1:c.992C>A	XP_011542217.1:p.Ala331Asp
XM_011543916.1:c.992C>A	XP_011542218.1:p.Ala331Asp
XM_011543917.1:c.791C>A	XP_011542219.1:p.Ala264Asp
XM_011543918.1:c.1028C>A	XP_011542220.1:p.Ala343Asp
XM_011543919.1:c.992C>A	XP_011542221.1:p.Ala331Asp
XM_017029567.1:c.719C>A	XP_016885056.1:p.Ala240Asp
NM_001114377.2:c.668C>A	NP_001107849.1:p.Ala223Asp
NM_014009.4:c.773C>A MANE Select	NP_054728.2:p.Ala258Asp