Canonical Allele Identifier: CA22068391

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 1121403
• ClinVar RCV Id: RCV001451684 ; RCV002396048
• dbSNP Id: rs1031196506
• gnomAD v4: 1-47416453-T-C
• MyVariant Identifiers: chr1:g.47882125T>C (hg19) ; chr1:g.47416453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416453T>C , CM000663.2:g.47416453T>C	GRCh38
NC_000001.10:g.47882125T>C , CM000663.1:g.47882125T>C	GRCh37
NC_000001.9:g.47654712T>C	NCBI36
NG_016192.1:g.5382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.138T>C (FOXE3) MANE Select	ENSP00000334472.2:p.Ala46=
ENST00000335071.3:c.138T>C (FOXE3)	ENSP00000334472.2:p.Ala46=
NM_012186.2:c.138T>C (FOXE3)	NP_036318.1:p.Ala46=
NR_126355.1:n.29-6552A>G (LINC01389)
NM_012186.3:c.138T>C (FOXE3) MANE Select	NP_036318.1:p.Ala46=