Canonical Allele Identifier: CA200516

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 193357
• ClinVar RCV Id: RCV000173422 ; RCV001517596 ; RCV001711462 ; RCV002500455 ; RCV002336418 ; RCV003485547 ; RCV003343670
• dbSNP Id: rs34082359
• ExAC: 1:47882497 C / T
• gnomAD v2: 1-47882497-C-T
• gnomAD v3: 1-47416825-C-T
• gnomAD v4: 1-47416825-C-T
• MyVariant Identifiers: chr1:g.47882497C>T (hg19) ; chr1:g.47416825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416825C>T , CM000663.2:g.47416825C>T	GRCh38
NC_000001.10:g.47882497C>T , CM000663.1:g.47882497C>T	GRCh37
NC_000001.9:g.47655084C>T	NCBI36
NG_016192.1:g.5754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.510C>T (FOXE3) MANE Select	ENSP00000334472.2:p.Ala170=
ENST00000335071.3:c.510C>T (FOXE3)	ENSP00000334472.2:p.Ala170=
NM_012186.2:c.510C>T (FOXE3)	NP_036318.1:p.Ala170=
NR_126355.1:n.29-6924G>A (LINC01389)
NM_012186.3:c.510C>T (FOXE3) MANE Select	NP_036318.1:p.Ala170=