Canonical Allele Identifier: CA842917

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 427852
• ClinVar RCV Id: RCV000521849 ; RCV001062090 ; RCV003736793 ; RCV004023273
• dbSNP Id: rs377669670
• ExAC: 1:47882219 G / A
• gnomAD v2: 1-47882219-G-A
• gnomAD v3: 1-47416547-G-A
• gnomAD v4: 1-47416547-G-A
• MyVariant Identifiers: chr1:g.47882219G>A (hg19) ; chr1:g.47416547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416547G>A , CM000663.2:g.47416547G>A	GRCh38
NC_000001.10:g.47882219G>A , CM000663.1:g.47882219G>A	GRCh37
NC_000001.9:g.47654806G>A	NCBI36
NG_016192.1:g.5476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.232G>A (FOXE3) MANE Select	ENSP00000334472.2:p.Ala78Thr
ENST00000335071.3:c.232G>A (FOXE3)	ENSP00000334472.2:p.Ala78Thr
NM_012186.2:c.232G>A (FOXE3)	NP_036318.1:p.Ala78Thr
NR_126355.1:n.29-6646C>T (LINC01389)
NM_012186.3:c.232G>A (FOXE3) MANE Select	NP_036318.1:p.Ala78Thr