Canonical Allele Identifier: CA10604352

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 282952
• ClinVar RCV Id: RCV000390108 ; RCV001087380 ; RCV002436100
• dbSNP Id: rs886042525
• gnomAD v3: 1-47417149-C-T
• gnomAD v4: 1-47417149-C-T
• MyVariant Identifiers: chr1:g.47882821C>T (hg19) ; chr1:g.47417149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47417149C>T , CM000663.2:g.47417149C>T	GRCh38
NC_000001.10:g.47882821C>T , CM000663.1:g.47882821C>T	GRCh37
NC_000001.9:g.47655408C>T	NCBI36
NG_016192.1:g.6078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.834C>T (FOXE3) MANE Select	ENSP00000334472.2:p.Pro278=
ENST00000335071.3:c.834C>T (FOXE3)	ENSP00000334472.2:p.Pro278=
NM_012186.2:c.834C>T (FOXE3)	NP_036318.1:p.Pro278=
NR_126355.1:n.29-7248G>A (LINC01389)
NM_012186.3:c.834C>T (FOXE3) MANE Select	NP_036318.1:p.Pro278=