Canonical Allele Identifier: CA843018

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 289293
• ClinVar RCV Id: RCV000282419 ; RCV000877879 ; RCV001726089 ; RCV002374481
• dbSNP Id: rs571095192
• ExAC: 1:47882916 G / A
• gnomAD v2: 1-47882916-G-A
• gnomAD v3: 1-47417244-G-A
• gnomAD v4: 1-47417244-G-A
• MyVariant Identifiers: chr1:g.47882916G>A (hg19) ; chr1:g.47417244G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47417244G>A , CM000663.2:g.47417244G>A	GRCh38
NC_000001.10:g.47882916G>A , CM000663.1:g.47882916G>A	GRCh37
NC_000001.9:g.47655503G>A	NCBI36
NG_016192.1:g.6173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.929G>A (FOXE3) MANE Select	ENSP00000334472.2:p.Gly310Asp
ENST00000335071.3:c.929G>A (FOXE3)	ENSP00000334472.2:p.Gly310Asp
NM_012186.2:c.929G>A (FOXE3)	NP_036318.1:p.Gly310Asp
NR_126355.1:n.29-7343C>T (LINC01389)
NM_012186.3:c.929G>A (FOXE3) MANE Select	NP_036318.1:p.Gly310Asp