Canonical Allele Identifier: CA412951091

Gene: FOXP3

Linked Data

• ClinVar Variation Id: 2431861
• ClinVar RCV Id: RCV003142444
• MyVariant Identifiers: chrX:g.49112195A>G (hg19) ; chrX:g.49255734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255734A>G , CM000685.2:g.49255734A>G	GRCh38
NC_000023.10:g.49112195A>G , CM000685.1:g.49112195A>G	GRCh37
NC_000023.9:g.48999139A>G	NCBI36
NG_007392.1:g.14094T>C , LRG_62:g.14094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376199.7:c.611T>C	ENSP00000365372.2:p.Val204Ala
ENST00000376207.10:c.716T>C MANE Select	ENSP00000365380.4:p.Val239Ala
ENST00000455775.7:c.785T>C	ENSP00000396415.3:p.Val262Ala
ENST00000518685.6:c.716T>C	ENSP00000428952.2:p.Val239Ala
ENST00000557224.6:c.611T>C	ENSP00000451208.1:p.Val204Ala
ENST00000651307.1:c.716T>C	ENSP00000498454.1:p.Val239Ala
ENST00000376197.1:c.566T>C	ENSP00000365369.1:p.Val189Ala
ENST00000376199.6:c.611T>C	ENSP00000365372.2:p.Val204Ala
ENST00000376207.8:c.716T>C	ENSP00000365380.4:p.Val239Ala
ENST00000455775.6:c.785T>C	ENSP00000396415.3:p.Val262Ala
ENST00000518685.5:c.611T>C	ENSP00000428952.1:p.Val204Ala
ENST00000557224.5:c.611T>C	ENSP00000451208.1:p.Val204Ala
NM_001114377.1:c.611T>C	NP_001107849.1:p.Val204Ala
NM_014009.3:c.716T>C , LRG_62t1:c.716T>C	NP_054728.2:p.Val239Ala
XM_006724533.2:c.785T>C	XP_006724596.2:p.Val262Ala
XM_011543915.1:c.935T>C	XP_011542217.1:p.Val312Ala
XM_011543916.1:c.935T>C	XP_011542218.1:p.Val312Ala
XM_011543917.1:c.734T>C	XP_011542219.1:p.Val245Ala
XM_011543918.1:c.971T>C	XP_011542220.1:p.Val324Ala
XM_011543919.1:c.935T>C	XP_011542221.1:p.Val312Ala
XM_017029567.1:c.662T>C	XP_016885056.1:p.Val221Ala
NM_001114377.2:c.611T>C	NP_001107849.1:p.Val204Ala
NM_014009.4:c.716T>C MANE Select	NP_054728.2:p.Val239Ala