Canonical Allele Identifier: CA10604059
Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282065
ClinVar RCV Id: RCV000387030 RCV001380270
dbSNP Id: rs886044787
MyVariant Identifiers: chrX:g.49109616G>C (hg19) chrX:g.49253155G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49253155G>C , CM000685.2:g.49253155G>C GRCh38
NC_000023.10:g.49109616G>C , CM000685.1:g.49109616G>C GRCh37
NC_000023.9:g.48996560G>C NCBI36
NG_007392.1:g.16673C>G , LRG_62:g.16673C>G
NG_021311.2:g.22691G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.910C>G ENSP00000365372.2:p.Pro304Ala
ENST00000376207.10:c.1015C>G MANE Select ENSP00000365380.4:p.Pro339Ala
ENST00000455775.7:c.1084C>G ENSP00000396415.3:p.Pro362Ala
ENST00000518685.6:c.934C>G ENSP00000428952.2:p.Pro312Ala
ENST00000557224.6:c.910C>G ENSP00000451208.1:p.Pro304Ala
ENST00000651307.1:c.967+762C>G ENSP00000498454.1:n.967+762C>G
ENST00000376197.1:c.865C>G ENSP00000365369.1:p.Pro289Ala
ENST00000376199.6:c.910C>G ENSP00000365372.2:p.Pro304Ala
ENST00000376207.8:c.1015C>G ENSP00000365380.4:p.Pro339Ala
ENST00000455775.6:c.1084C>G ENSP00000396415.3:p.Pro362Ala
ENST00000518685.5:c.910C>G ENSP00000428952.1:p.Pro304Ala
ENST00000557224.5:c.910C>G ENSP00000451208.1:p.Pro304Ala
NM_001114377.1:c.910C>G NP_001107849.1:p.Pro304Ala
NM_014009.3:c.1015C>G , LRG_62t1:c.1015C>G NP_054728.2:p.Pro339Ala
XM_006724533.2:c.1084C>G XP_006724596.2:p.Pro362Ala
XM_011543915.1:c.1234C>G XP_011542217.1:p.Pro412Ala
XM_011543916.1:c.1234C>G XP_011542218.1:p.Pro412Ala
XM_011543917.1:c.1033C>G XP_011542219.1:p.Pro345Ala
XM_011543918.1:c.1270C>G XP_011542220.1:p.Pro424Ala
XM_011543919.1:c.1234C>G XP_011542221.1:p.Pro412Ala
XM_017029567.1:c.961C>G XP_016885056.1:p.Pro321Ala
NM_001114377.2:c.910C>G NP_001107849.1:p.Pro304Ala
NM_014009.4:c.1015C>G MANE Select NP_054728.2:p.Pro339Ala
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