Canonical Allele Identifier: CA412948802
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49251705-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49251705G>T , CM000685.2:g.49251705G>T GRCh38
NC_000023.10:g.49108166G>T , CM000685.1:g.49108166G>T GRCh37
NC_000023.9:g.48995110G>T NCBI36
NG_007392.1:g.18123C>A , LRG_62:g.18123C>A
NG_021311.2:g.21241G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.1000C>A ENSP00000365372.2:p.Arg334Ser
ENST00000376207.10:c.1105C>A MANE Select ENSP00000365380.4:p.Arg369Ser
ENST00000455775.7:c.1174C>A ENSP00000396415.3:p.Arg392Ser
ENST00000518685.6:c.1024C>A ENSP00000428952.2:p.Arg342Ser
ENST00000557224.6:c.1000C>A ENSP00000451208.1:p.Arg334Ser
ENST00000651307.1:c.*20C>A ENSP00000498454.1:n.*20C>A
ENST00000376197.1:c.955C>A ENSP00000365369.1:p.Arg319Ser
ENST00000376199.6:c.1000C>A ENSP00000365372.2:p.Arg334Ser
ENST00000376207.8:c.1105C>A ENSP00000365380.4:p.Arg369Ser
ENST00000455775.6:c.1174C>A ENSP00000396415.3:p.Arg392Ser
ENST00000518685.5:c.1000C>A ENSP00000428952.1:p.Arg334Ser
ENST00000557224.5:c.1000C>A ENSP00000451208.1:p.Arg334Ser
NM_001114377.1:c.1000C>A NP_001107849.1:p.Arg334Ser
NM_014009.3:c.1105C>A , LRG_62t1:c.1105C>A NP_054728.2:p.Arg369Ser
XM_006724533.2:c.1174C>A XP_006724596.2:p.Arg392Ser
XM_011543915.1:c.1324C>A XP_011542217.1:p.Arg442Ser
XM_011543916.1:c.1324C>A XP_011542218.1:p.Arg442Ser
XM_011543917.1:c.1123C>A XP_011542219.1:p.Arg375Ser
XM_011543918.1:c.1360C>A XP_011542220.1:p.Arg454Ser
XM_011543919.1:c.1324C>A XP_011542221.1:p.Arg442Ser
XM_017029567.1:c.1051C>A XP_016885056.1:p.Arg351Ser
NM_001114377.2:c.1000C>A NP_001107849.1:p.Arg334Ser
NM_014009.4:c.1105C>A MANE Select NP_054728.2:p.Arg369Ser