Canonical Allele Identifier: CA10604059
Gene: FOXP3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 282065
ClinVar RCV Id: RCV000387030
dbSNP Id: rs886044787

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
NM_001114377.1:c.910C>G VV 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
ENST00000376197.1:n.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:n.910C>G ENSP00000451208.1:p.Pro304Ala