Canonical Allele Identifier: CA1132980689
Gene: FOXP3 HGNC NCBI

Linked Data

dbSNP Id: rs1557116185
gnomAD v3: X-49255662-A-G
gnomAD v4: X-49255662-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255662A>G , CM000685.2:g.49255662A>G GRCh38
NC_000023.10:g.49112123A>G , CM000685.1:g.49112123A>G GRCh37
NC_000023.9:g.48999067A>G NCBI36
NG_007392.1:g.14166T>C , LRG_62:g.14166T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.630+53T>C ENSP00000365372.2:n.630+53T>C
ENST00000376207.10:c.735+53T>C MANE Select ENSP00000365380.4:n.735+53T>C
ENST00000455775.7:c.804+53T>C ENSP00000396415.3:n.804+53T>C
ENST00000518685.6:c.735+53T>C ENSP00000428952.2:n.735+53T>C
ENST00000557224.6:c.630+53T>C ENSP00000451208.1:n.630+53T>C
ENST00000651307.1:c.735+53T>C ENSP00000498454.1:n.735+53T>C
ENST00000376197.1:c.585+53T>C ENSP00000365369.1:n.585+53T>C
ENST00000376199.6:c.630+53T>C ENSP00000365372.2:n.630+53T>C
ENST00000376207.8:c.735+53T>C ENSP00000365380.4:n.735+53T>C
ENST00000455775.6:c.804+53T>C ENSP00000396415.3:n.804+53T>C
ENST00000518685.5:c.630+53T>C ENSP00000428952.1:n.630+53T>C
ENST00000557224.5:c.630+53T>C ENSP00000451208.1:n.630+53T>C
NM_001114377.1:c.630+53T>C NP_001107849.1:n.630+53T>C
NM_014009.3:c.735+53T>C , LRG_62t1:c.735+53T>C NP_054728.2:n.735+53T>C
XM_006724533.2:c.804+53T>C XP_006724596.2:n.804+53T>C
XM_011543915.1:c.954+53T>C XP_011542217.1:n.954+53T>C
XM_011543916.1:c.954+53T>C XP_011542218.1:n.954+53T>C
XM_011543917.1:c.753+53T>C XP_011542219.1:n.753+53T>C
XM_011543918.1:c.990+53T>C XP_011542220.1:n.990+53T>C
XM_011543919.1:c.954+53T>C XP_011542221.1:n.954+53T>C
XM_017029567.1:c.681+53T>C XP_016885056.1:n.681+53T>C
NM_001114377.2:c.630+53T>C NP_001107849.1:n.630+53T>C
NM_014009.4:c.735+53T>C MANE Select NP_054728.2:n.735+53T>C