Canonical Allele Identifier: CA340249821
Community Standard Title: NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu)
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416702C>G , CM000663.2:g.47416702C>G GRCh38
NC_000001.10:g.47882374C>G , CM000663.1:g.47882374C>G GRCh37
NC_000001.9:g.47654961C>G NCBI36
NG_016192.1:g.5631C>G

Transcript Alleles

HGVS Amino-acid Change
NM_012186.3:c.387C>G (FOXE3) MANE Select NP_036318.1:p.Phe129Leu
ENST00000335071.4:c.387C>G (FOXE3) MANE Select ENSP00000334472.2:p.Phe129Leu
NM_012186.2:c.387C>G (FOXE3) NP_036318.1:p.Phe129Leu
NR_126355.1:n.29-6801G>C (LINC01389)
ENST00000335071.3:c.387C>G (FOXE3) ENSP00000334472.2:p.Phe129Leu