Canonical Allele Identifier: CA10604752

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 284289
• ClinVar RCV Id: RCV000357491 ; RCV003765617
• dbSNP Id: rs886042841
• MyVariant Identifiers: chr1:g.47882115A>C (hg19) ; chr1:g.47416443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416443A>C , CM000663.2:g.47416443A>C	GRCh38
NC_000001.10:g.47882115A>C , CM000663.1:g.47882115A>C	GRCh37
NC_000001.9:g.47654702A>C	NCBI36
NG_016192.1:g.5372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.128A>C (FOXE3) MANE Select	ENSP00000334472.2:p.Glu43Ala
ENST00000335071.3:c.128A>C (FOXE3)	ENSP00000334472.2:p.Glu43Ala
NM_012186.2:c.128A>C (FOXE3)	NP_036318.1:p.Glu43Ala
NR_126355.1:n.29-6542T>G (LINC01389)
NM_012186.3:c.128A>C (FOXE3) MANE Select	NP_036318.1:p.Glu43Ala