Canonical Allele Identifier: CA412950913

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255456-T-A
• MyVariant Identifiers: chrX:g.49111917T>A (hg19) ; chrX:g.49255456T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255456T>A , CM000685.2:g.49255456T>A	GRCh38
NC_000023.10:g.49111917T>A , CM000685.1:g.49111917T>A	GRCh37
NC_000023.9:g.48998861T>A	NCBI36
NG_007392.1:g.14372A>T , LRG_62:g.14372A>T
NG_021311.2:g.24992T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.684A>T	ENSP00000365372.2:p.Lys228Asn
ENST00000376207.10:c.789A>T MANE Select	ENSP00000365380.4:p.Lys263Asn
ENST00000455775.7:c.858A>T	ENSP00000396415.3:p.Lys286Asn
ENST00000518685.6:c.735+259A>T	ENSP00000428952.2:n.735+259A>T
ENST00000557224.6:c.684A>T	ENSP00000451208.1:p.Lys228Asn
ENST00000651307.1:c.789A>T	ENSP00000498454.1:p.Lys263Asn
ENST00000376197.1:c.639A>T	ENSP00000365369.1:p.Lys213Asn
ENST00000376199.6:c.684A>T	ENSP00000365372.2:p.Lys228Asn
ENST00000376207.8:c.789A>T	ENSP00000365380.4:p.Lys263Asn
ENST00000455775.6:c.858A>T	ENSP00000396415.3:p.Lys286Asn
ENST00000518685.5:c.684A>T	ENSP00000428952.1:p.Lys228Asn
ENST00000557224.5:c.684A>T	ENSP00000451208.1:p.Lys228Asn
NM_001114377.1:c.684A>T	NP_001107849.1:p.Lys228Asn
NM_014009.3:c.789A>T , LRG_62t1:c.789A>T	NP_054728.2:p.Lys263Asn
XM_006724533.2:c.858A>T	XP_006724596.2:p.Lys286Asn
XM_011543915.1:c.1008A>T	XP_011542217.1:p.Lys336Asn
XM_011543916.1:c.1008A>T	XP_011542218.1:p.Lys336Asn
XM_011543917.1:c.807A>T	XP_011542219.1:p.Lys269Asn
XM_011543918.1:c.1044A>T	XP_011542220.1:p.Lys348Asn
XM_011543919.1:c.1008A>T	XP_011542221.1:p.Lys336Asn
XM_017029567.1:c.735A>T	XP_016885056.1:p.Lys245Asn
NM_001114377.2:c.684A>T	NP_001107849.1:p.Lys228Asn
NM_014009.4:c.789A>T MANE Select	NP_054728.2:p.Lys263Asn