Canonical Allele Identifier: CA340249813
Community Standard Title: NM_012186.3(FOXE3):c.385T>C (p.Phe129Leu)
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416700T>C , CM000663.2:g.47416700T>C GRCh38
NC_000001.10:g.47882372T>C , CM000663.1:g.47882372T>C GRCh37
NC_000001.9:g.47654959T>C NCBI36
NG_016192.1:g.5629T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012186.3:c.385T>C (FOXE3) MANE Select NP_036318.1:p.Phe129Leu
ENST00000335071.4:c.385T>C (FOXE3) MANE Select ENSP00000334472.2:p.Phe129Leu
NM_012186.2:c.385T>C (FOXE3) NP_036318.1:p.Phe129Leu
NR_126355.1:n.29-6799A>G (LINC01389)
ENST00000335071.3:c.385T>C (FOXE3) ENSP00000334472.2:p.Phe129Leu