Canonical Allele Identifier: CA412950987

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255489-C-A
• MyVariant Identifiers: chrX:g.49111950C>A (hg19) ; chrX:g.49255489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255489C>A , CM000685.2:g.49255489C>A	GRCh38
NC_000023.10:g.49111950C>A , CM000685.1:g.49111950C>A	GRCh37
NC_000023.9:g.48998894C>A	NCBI36
NG_007392.1:g.14339G>T , LRG_62:g.14339G>T
NG_021311.2:g.25025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.651G>T	ENSP00000365372.2:p.Lys217Asn
ENST00000376207.10:c.756G>T MANE Select	ENSP00000365380.4:p.Lys252Asn
ENST00000455775.7:c.825G>T	ENSP00000396415.3:p.Lys275Asn
ENST00000518685.6:c.735+226G>T	ENSP00000428952.2:n.735+226G>T
ENST00000557224.6:c.651G>T	ENSP00000451208.1:p.Lys217Asn
ENST00000651307.1:c.756G>T	ENSP00000498454.1:p.Lys252Asn
ENST00000376197.1:c.606G>T	ENSP00000365369.1:p.Lys202Asn
ENST00000376199.6:c.651G>T	ENSP00000365372.2:p.Lys217Asn
ENST00000376207.8:c.756G>T	ENSP00000365380.4:p.Lys252Asn
ENST00000455775.6:c.825G>T	ENSP00000396415.3:p.Lys275Asn
ENST00000518685.5:c.651G>T	ENSP00000428952.1:p.Lys217Asn
ENST00000557224.5:c.651G>T	ENSP00000451208.1:p.Lys217Asn
NM_001114377.1:c.651G>T	NP_001107849.1:p.Lys217Asn
NM_014009.3:c.756G>T , LRG_62t1:c.756G>T	NP_054728.2:p.Lys252Asn
XM_006724533.2:c.825G>T	XP_006724596.2:p.Lys275Asn
XM_011543915.1:c.975G>T	XP_011542217.1:p.Lys325Asn
XM_011543916.1:c.975G>T	XP_011542218.1:p.Lys325Asn
XM_011543917.1:c.774G>T	XP_011542219.1:p.Lys258Asn
XM_011543918.1:c.1011G>T	XP_011542220.1:p.Lys337Asn
XM_011543919.1:c.975G>T	XP_011542221.1:p.Lys325Asn
XM_017029567.1:c.702G>T	XP_016885056.1:p.Lys234Asn
NM_001114377.2:c.651G>T	NP_001107849.1:p.Lys217Asn
NM_014009.4:c.756G>T MANE Select	NP_054728.2:p.Lys252Asn