Canonical Allele Identifier: CA340249497

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 427853
• ClinVar RCV Id: RCV000523691 ; RCV003766755
• dbSNP Id: rs755377651
• gnomAD v2: 1-47882297-C-T
• gnomAD v4: 1-47416625-C-T
• MyVariant Identifiers: chr1:g.47882297C>T (hg19) ; chr1:g.47416625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416625C>T , CM000663.2:g.47416625C>T	GRCh38
NC_000001.10:g.47882297C>T , CM000663.1:g.47882297C>T	GRCh37
NC_000001.9:g.47654884C>T	NCBI36
NG_016192.1:g.5554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.310C>T (FOXE3) MANE Select	ENSP00000334472.2:p.Arg104Cys
ENST00000335071.3:c.310C>T (FOXE3)	ENSP00000334472.2:p.Arg104Cys
NM_012186.2:c.310C>T (FOXE3)	NP_036318.1:p.Arg104Cys
NR_126355.1:n.29-6724G>A (LINC01389)
NM_012186.3:c.310C>T (FOXE3) MANE Select	NP_036318.1:p.Arg104Cys