Canonical Allele Identifier: CA412950897

Gene: FOXP3

Linked Data

• gnomAD v4: X-49255449-G-C
• MyVariant Identifiers: chrX:g.49111910G>C (hg19) ; chrX:g.49255449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49255449G>C , CM000685.2:g.49255449G>C	GRCh38
NC_000023.10:g.49111910G>C , CM000685.1:g.49111910G>C	GRCh37
NC_000023.9:g.48998854G>C	NCBI36
NG_007392.1:g.14379C>G , LRG_62:g.14379C>G
NG_021311.2:g.24985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376199.7:c.691C>G	ENSP00000365372.2:p.Leu231Val
ENST00000376207.10:c.796C>G MANE Select	ENSP00000365380.4:p.Leu266Val
ENST00000455775.7:c.865C>G	ENSP00000396415.3:p.Leu289Val
ENST00000518685.6:c.735+266C>G	ENSP00000428952.2:n.735+266C>G
ENST00000557224.6:c.691C>G	ENSP00000451208.1:p.Leu231Val
ENST00000651307.1:c.796C>G	ENSP00000498454.1:p.Leu266Val
ENST00000376197.1:c.646C>G	ENSP00000365369.1:p.Leu216Val
ENST00000376199.6:c.691C>G	ENSP00000365372.2:p.Leu231Val
ENST00000376207.8:c.796C>G	ENSP00000365380.4:p.Leu266Val
ENST00000455775.6:c.865C>G	ENSP00000396415.3:p.Leu289Val
ENST00000518685.5:c.691C>G	ENSP00000428952.1:p.Leu231Val
ENST00000557224.5:c.691C>G	ENSP00000451208.1:p.Leu231Val
NM_001114377.1:c.691C>G	NP_001107849.1:p.Leu231Val
NM_014009.3:c.796C>G , LRG_62t1:c.796C>G	NP_054728.2:p.Leu266Val
XM_006724533.2:c.865C>G	XP_006724596.2:p.Leu289Val
XM_011543915.1:c.1015C>G	XP_011542217.1:p.Leu339Val
XM_011543916.1:c.1015C>G	XP_011542218.1:p.Leu339Val
XM_011543917.1:c.814C>G	XP_011542219.1:p.Leu272Val
XM_011543918.1:c.1051C>G	XP_011542220.1:p.Leu351Val
XM_011543919.1:c.1015C>G	XP_011542221.1:p.Leu339Val
XM_017029567.1:c.742C>G	XP_016885056.1:p.Leu248Val
NM_001114377.2:c.691C>G	NP_001107849.1:p.Leu231Val
NM_014009.4:c.796C>G MANE Select	NP_054728.2:p.Leu266Val