Canonical Allele Identifier: CA412951003
Gene: FOXP3 HGNC NCBI

Linked Data

gnomAD v4: X-49255495-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255495C>A , CM000685.2:g.49255495C>A GRCh38
NC_000023.10:g.49111956C>A , CM000685.1:g.49111956C>A GRCh37
NC_000023.9:g.48998900C>A NCBI36
NG_007392.1:g.14333G>T , LRG_62:g.14333G>T
NG_021311.2:g.25031C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.645G>T ENSP00000365372.2:p.Lys215Asn
ENST00000376207.10:c.750G>T MANE Select ENSP00000365380.4:p.Lys250Asn
ENST00000455775.7:c.819G>T ENSP00000396415.3:p.Lys273Asn
ENST00000518685.6:c.735+220G>T ENSP00000428952.2:n.735+220G>T
ENST00000557224.6:c.645G>T ENSP00000451208.1:p.Lys215Asn
ENST00000651307.1:c.750G>T ENSP00000498454.1:p.Lys250Asn
ENST00000376197.1:c.600G>T ENSP00000365369.1:p.Lys200Asn
ENST00000376199.6:c.645G>T ENSP00000365372.2:p.Lys215Asn
ENST00000376207.8:c.750G>T ENSP00000365380.4:p.Lys250Asn
ENST00000455775.6:c.819G>T ENSP00000396415.3:p.Lys273Asn
ENST00000518685.5:c.645G>T ENSP00000428952.1:p.Lys215Asn
ENST00000557224.5:c.645G>T ENSP00000451208.1:p.Lys215Asn
NM_001114377.1:c.645G>T NP_001107849.1:p.Lys215Asn
NM_014009.3:c.750G>T , LRG_62t1:c.750G>T NP_054728.2:p.Lys250Asn
XM_006724533.2:c.819G>T XP_006724596.2:p.Lys273Asn
XM_011543915.1:c.969G>T XP_011542217.1:p.Lys323Asn
XM_011543916.1:c.969G>T XP_011542218.1:p.Lys323Asn
XM_011543917.1:c.768G>T XP_011542219.1:p.Lys256Asn
XM_011543918.1:c.1005G>T XP_011542220.1:p.Lys335Asn
XM_011543919.1:c.969G>T XP_011542221.1:p.Lys323Asn
XM_017029567.1:c.696G>T XP_016885056.1:p.Lys232Asn
NM_001114377.2:c.645G>T NP_001107849.1:p.Lys215Asn
NM_014009.4:c.750G>T MANE Select NP_054728.2:p.Lys250Asn