Canonical Allele Identifier: CA340249827
Community Standard Title: NM_012186.3(FOXE3):c.388G>T (p.Val130Phe)
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416703G>T , CM000663.2:g.47416703G>T GRCh38
NC_000001.10:g.47882375G>T , CM000663.1:g.47882375G>T GRCh37
NC_000001.9:g.47654962G>T NCBI36
NG_016192.1:g.5632G>T

Transcript Alleles

HGVS Amino-acid Change
NM_012186.3:c.388G>T (FOXE3) MANE Select NP_036318.1:p.Val130Phe
ENST00000335071.4:c.388G>T (FOXE3) MANE Select ENSP00000334472.2:p.Val130Phe
NM_012186.2:c.388G>T (FOXE3) NP_036318.1:p.Val130Phe
NR_126355.1:n.29-6802C>A (LINC01389)
ENST00000335071.3:c.388G>T (FOXE3) ENSP00000334472.2:p.Val130Phe