Canonical Allele Identifier: CA118579

Gene: FOXE1

Linked Data

• ClinVar Variation Id: 6987
• ClinVar RCV Id: RCV000007403
• dbSNP Id: rs28937575
• MyVariant Identifiers: chr9:g.100616366G>A (hg19) ; chr9:g.97854084G>A (hg38)
• PubMed: PMID:12165566 ; PMID:21177256

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97854084G>A , CM000671.2:g.97854084G>A	GRCh38
NC_000009.11:g.100616366G>A , CM000671.1:g.100616366G>A	GRCh37
NC_000009.10:g.99656187G>A	NCBI36
NG_011979.1:g.5830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375123.5:c.170G>A MANE Select	ENSP00000364265.3:p.Ser57Asn
ENST00000375123.4:c.170G>A	ENSP00000364265.3:p.Ser57Asn
NM_004473.3:c.170G>A	NP_004464.2:p.Ser57Asn
NM_004473.4:c.170G>A MANE Select	NP_004464.2:p.Ser57Asn