Canonical Allele Identifier: CA16044411

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 375651
• ClinVar RCV Id: RCV000417170 ; RCV000755150 ; RCV002338979 ; RCV001861471
• dbSNP Id: rs367943249
• gnomAD v2: 1-47882444-G-C
• gnomAD v3: 1-47416772-G-C
• gnomAD v4: 1-47416772-G-C
• MyVariant Identifiers: chr1:g.47882444G>C (hg19) ; chr1:g.47416772G>C (hg38)
• PubMed: PMID:26854927

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416772G>C , CM000663.2:g.47416772G>C	GRCh38
NC_000001.10:g.47882444G>C , CM000663.1:g.47882444G>C	GRCh37
NC_000001.9:g.47655031G>C	NCBI36
NG_016192.1:g.5701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.457G>C (FOXE3) MANE Select	ENSP00000334472.2:p.Asp153His
ENST00000335071.3:c.457G>C (FOXE3)	ENSP00000334472.2:p.Asp153His
NM_012186.2:c.457G>C (FOXE3)	NP_036318.1:p.Asp153His
NR_126355.1:n.29-6871C>G (LINC01389)
NM_012186.3:c.457G>C (FOXE3) MANE Select	NP_036318.1:p.Asp153His