Canonical Allele Identifier: CA16043289

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 373204
• ClinVar RCV Id: RCV000414229
• dbSNP Id: rs1057518281
• MyVariant Identifiers: chrX:g.49108163T>C (hg19) ; chrX:g.49251702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49251702T>C , CM000685.2:g.49251702T>C	GRCh38
NC_000023.10:g.49108163T>C , CM000685.1:g.49108163T>C	GRCh37
NC_000023.9:g.48995107T>C	NCBI36
NG_007392.1:g.18126A>G , LRG_62:g.18126A>G
NG_021311.2:g.21238T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.1003A>G	ENSP00000365372.2:p.Met335Val
ENST00000376207.10:c.1108A>G MANE Select	ENSP00000365380.4:p.Met370Val
ENST00000455775.7:c.1177A>G	ENSP00000396415.3:p.Met393Val
ENST00000518685.6:c.1027A>G	ENSP00000428952.2:p.Met343Val
ENST00000557224.6:c.1003A>G	ENSP00000451208.1:p.Met335Val
ENST00000651307.1:c.*23A>G	ENSP00000498454.1:n.*23A>G
ENST00000376197.1:c.958A>G	ENSP00000365369.1:p.Met320Val
ENST00000376199.6:c.1003A>G	ENSP00000365372.2:p.Met335Val
ENST00000376207.8:c.1108A>G	ENSP00000365380.4:p.Met370Val
ENST00000455775.6:c.1177A>G	ENSP00000396415.3:p.Met393Val
ENST00000518685.5:c.1003A>G	ENSP00000428952.1:p.Met335Val
ENST00000557224.5:c.1003A>G	ENSP00000451208.1:p.Met335Val
NM_001114377.1:c.1003A>G	NP_001107849.1:p.Met335Val
NM_014009.3:c.1108A>G , LRG_62t1:c.1108A>G	NP_054728.2:p.Met370Val
XM_006724533.2:c.1177A>G	XP_006724596.2:p.Met393Val
XM_011543915.1:c.1327A>G	XP_011542217.1:p.Met443Val
XM_011543916.1:c.1327A>G	XP_011542218.1:p.Met443Val
XM_011543917.1:c.1126A>G	XP_011542219.1:p.Met376Val
XM_011543918.1:c.1363A>G	XP_011542220.1:p.Met455Val
XM_011543919.1:c.1327A>G	XP_011542221.1:p.Met443Val
XM_017029567.1:c.1054A>G	XP_016885056.1:p.Met352Val
NM_001114377.2:c.1003A>G	NP_001107849.1:p.Met335Val
NM_014009.4:c.1108A>G MANE Select	NP_054728.2:p.Met370Val