Canonical Allele Identifier: CA412951020

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255502-A-G
• MyVariant Identifiers: chrX:g.49111963A>G (hg19) ; chrX:g.49255502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255502A>G , CM000685.2:g.49255502A>G	GRCh38
NC_000023.10:g.49111963A>G , CM000685.1:g.49111963A>G	GRCh37
NC_000023.9:g.48998907A>G	NCBI36
NG_007392.1:g.14326T>C , LRG_62:g.14326T>C
NG_021311.2:g.25038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.638T>C	ENSP00000365372.2:p.Leu213Pro
ENST00000376207.10:c.743T>C MANE Select	ENSP00000365380.4:p.Leu248Pro
ENST00000455775.7:c.812T>C	ENSP00000396415.3:p.Leu271Pro
ENST00000518685.6:c.735+213T>C	ENSP00000428952.2:n.735+213T>C
ENST00000557224.6:c.638T>C	ENSP00000451208.1:p.Leu213Pro
ENST00000651307.1:c.743T>C	ENSP00000498454.1:p.Leu248Pro
ENST00000376197.1:c.593T>C	ENSP00000365369.1:p.Leu198Pro
ENST00000376199.6:c.638T>C	ENSP00000365372.2:p.Leu213Pro
ENST00000376207.8:c.743T>C	ENSP00000365380.4:p.Leu248Pro
ENST00000455775.6:c.812T>C	ENSP00000396415.3:p.Leu271Pro
ENST00000518685.5:c.638T>C	ENSP00000428952.1:p.Leu213Pro
ENST00000557224.5:c.638T>C	ENSP00000451208.1:p.Leu213Pro
NM_001114377.1:c.638T>C	NP_001107849.1:p.Leu213Pro
NM_014009.3:c.743T>C , LRG_62t1:c.743T>C	NP_054728.2:p.Leu248Pro
XM_006724533.2:c.812T>C	XP_006724596.2:p.Leu271Pro
XM_011543915.1:c.962T>C	XP_011542217.1:p.Leu321Pro
XM_011543916.1:c.962T>C	XP_011542218.1:p.Leu321Pro
XM_011543917.1:c.761T>C	XP_011542219.1:p.Leu254Pro
XM_011543918.1:c.998T>C	XP_011542220.1:p.Leu333Pro
XM_011543919.1:c.962T>C	XP_011542221.1:p.Leu321Pro
XM_017029567.1:c.689T>C	XP_016885056.1:p.Leu230Pro
NM_001114377.2:c.638T>C	NP_001107849.1:p.Leu213Pro
NM_014009.4:c.743T>C MANE Select	NP_054728.2:p.Leu248Pro