Canonical Allele Identifier: CA340249035

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 1756392
• ClinVar RCV Id: RCV002378172 ; RCV003776328
• dbSNP Id: rs1170807231
• gnomAD v2: 1-47882088-G-T
• gnomAD v4: 1-47416416-G-T
• MyVariant Identifiers: chr1:g.47882088G>T (hg19) ; chr1:g.47416416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416416G>T , CM000663.2:g.47416416G>T	GRCh38
NC_000001.10:g.47882088G>T , CM000663.1:g.47882088G>T	GRCh37
NC_000001.9:g.47654675G>T	NCBI36
NG_016192.1:g.5345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.101G>T (FOXE3) MANE Select	ENSP00000334472.2:p.Gly34Val
ENST00000335071.3:c.101G>T (FOXE3)	ENSP00000334472.2:p.Gly34Val
NM_012186.2:c.101G>T (FOXE3)	NP_036318.1:p.Gly34Val
NR_126355.1:n.29-6515C>A (LINC01389)
NM_012186.3:c.101G>T (FOXE3) MANE Select	NP_036318.1:p.Gly34Val