Canonical Allele Identifier: CA412951010

Gene: FOXP3

Linked Data

• MyVariant Identifiers: chrX:g.49111958T>G (hg19) ; chrX:g.49255497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255497T>G , CM000685.2:g.49255497T>G	GRCh38
NC_000023.10:g.49111958T>G , CM000685.1:g.49111958T>G	GRCh37
NC_000023.9:g.48998902T>G	NCBI36
NG_007392.1:g.14331A>C , LRG_62:g.14331A>C
NG_021311.2:g.25033T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.643A>C	ENSP00000365372.2:p.Lys215Gln
ENST00000376207.10:c.748A>C MANE Select	ENSP00000365380.4:p.Lys250Gln
ENST00000455775.7:c.817A>C	ENSP00000396415.3:p.Lys273Gln
ENST00000518685.6:c.735+218A>C	ENSP00000428952.2:n.735+218A>C
ENST00000557224.6:c.643A>C	ENSP00000451208.1:p.Lys215Gln
ENST00000651307.1:c.748A>C	ENSP00000498454.1:p.Lys250Gln
ENST00000376197.1:c.598A>C	ENSP00000365369.1:p.Lys200Gln
ENST00000376199.6:c.643A>C	ENSP00000365372.2:p.Lys215Gln
ENST00000376207.8:c.748A>C	ENSP00000365380.4:p.Lys250Gln
ENST00000455775.6:c.817A>C	ENSP00000396415.3:p.Lys273Gln
ENST00000518685.5:c.643A>C	ENSP00000428952.1:p.Lys215Gln
ENST00000557224.5:c.643A>C	ENSP00000451208.1:p.Lys215Gln
NM_001114377.1:c.643A>C	NP_001107849.1:p.Lys215Gln
NM_014009.3:c.748A>C , LRG_62t1:c.748A>C	NP_054728.2:p.Lys250Gln
XM_006724533.2:c.817A>C	XP_006724596.2:p.Lys273Gln
XM_011543915.1:c.967A>C	XP_011542217.1:p.Lys323Gln
XM_011543916.1:c.967A>C	XP_011542218.1:p.Lys323Gln
XM_011543917.1:c.766A>C	XP_011542219.1:p.Lys256Gln
XM_011543918.1:c.1003A>C	XP_011542220.1:p.Lys335Gln
XM_011543919.1:c.967A>C	XP_011542221.1:p.Lys323Gln
XM_017029567.1:c.694A>C	XP_016885056.1:p.Lys232Gln
NM_001114377.2:c.643A>C	NP_001107849.1:p.Lys215Gln
NM_014009.4:c.748A>C MANE Select	NP_054728.2:p.Lys250Gln