Canonical Allele Identifier: CA340249348

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 1952325
• ClinVar RCV Id: RCV002676891 ; RCV004066897
• dbSNP Id: rs1225853707
• gnomAD v2: 1-47882245-C-G
• gnomAD v4: 1-47416573-C-G
• MyVariant Identifiers: chr1:g.47882245C>G (hg19) ; chr1:g.47416573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47416573C>G , CM000663.2:g.47416573C>G	GRCh38
NC_000001.10:g.47882245C>G , CM000663.1:g.47882245C>G	GRCh37
NC_000001.9:g.47654832C>G	NCBI36
NG_016192.1:g.5502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.258C>G (FOXE3) MANE Select	ENSP00000334472.2:p.His86Gln
ENST00000335071.3:c.258C>G (FOXE3)	ENSP00000334472.2:p.His86Gln
NM_012186.2:c.258C>G (FOXE3)	NP_036318.1:p.His86Gln
NR_126355.1:n.29-6672G>C (LINC01389)
NM_012186.3:c.258C>G (FOXE3) MANE Select	NP_036318.1:p.His86Gln