Canonical Allele Identifier: CA842967

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 383926
• ClinVar RCV Id: RCV000439291 ; RCV001861538
• dbSNP Id: rs747148416
• ExAC: 1:47882418 A / G
• gnomAD v2: 1-47882418-A-G
• gnomAD v3: 1-47416746-A-G
• gnomAD v4: 1-47416746-A-G
• MyVariant Identifiers: chr1:g.47882418A>G (hg19) ; chr1:g.47416746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416746A>G , CM000663.2:g.47416746A>G	GRCh38
NC_000001.10:g.47882418A>G , CM000663.1:g.47882418A>G	GRCh37
NC_000001.9:g.47655005A>G	NCBI36
NG_016192.1:g.5675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.431A>G (FOXE3) MANE Select	ENSP00000334472.2:p.Tyr144Cys
ENST00000335071.3:c.431A>G (FOXE3)	ENSP00000334472.2:p.Tyr144Cys
NM_012186.2:c.431A>G (FOXE3)	NP_036318.1:p.Tyr144Cys
NR_126355.1:n.29-6845T>C (LINC01389)
NM_012186.3:c.431A>G (FOXE3) MANE Select	NP_036318.1:p.Tyr144Cys