Canonical Allele Identifier: CA119630

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 8448
• ClinVar RCV Id: RCV000008963 ; RCV000255267 ; RCV001200038
• dbSNP Id: rs80358194
• ExAC: 1:47882707 C / A
• gnomAD v2: 1-47882707-C-A
• gnomAD v3: 1-47417035-C-A
• gnomAD v4: 1-47417035-C-A
• COSMIC: COSM5418821
• MyVariant Identifiers: chr1:g.47882707C>A (hg19) ; chr1:g.47417035C>A (hg38)
• PubMed: PMID:16826526 ; PMID:20361012

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47417035C>A , CM000663.2:g.47417035C>A	GRCh38
NC_000001.10:g.47882707C>A , CM000663.1:g.47882707C>A	GRCh37
NC_000001.9:g.47655294C>A	NCBI36
NG_016192.1:g.5964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.720C>A (FOXE3) MANE Select	ENSP00000334472.2:p.Cys240Ter
ENST00000335071.3:c.720C>A (FOXE3)	ENSP00000334472.2:p.Cys240Ter
NM_012186.2:c.720C>A (FOXE3)	NP_036318.1:p.Cys240Ter
NR_126355.1:n.29-7134G>T (LINC01389)
NM_012186.3:c.720C>A (FOXE3) MANE Select	NP_036318.1:p.Cys240Ter