Canonical Allele Identifier: CA114741

Gene: SOX17

Linked Data

• ClinVar Variation Id: 18413
• ClinVar RCV Id: RCV000001140 ; RCV000430409 ; RCV000895009 ; RCV003924848
• dbSNP Id: rs267607083
• ExAC: 8:55372085 T / A
• gnomAD v2: 8-55372085-T-A
• gnomAD v3: 8-54459525-T-A
• gnomAD v4: 8-54459525-T-A
• COSMIC: COSM4989785
• MyVariant Identifiers: chr8:g.55372085T>A (hg19) ; chr8:g.54459525T>A (hg38)
• PubMed: PMID:20960469 ; PMID:25333069 ; PMID:28566479

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54459525T>A , CM000670.2:g.54459525T>A	GRCh38
NC_000008.10:g.55372085T>A , CM000670.1:g.55372085T>A	GRCh37
NC_000008.9:g.55534638T>A	NCBI36
NG_028171.1:g.6591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297316.5:c.775T>A MANE Select	ENSP00000297316.4:p.Tyr259Asn
ENST00000297316.4:c.775T>A	ENSP00000297316.4:p.Tyr259Asn
NM_022454.3:c.775T>A	NP_071899.1:p.Tyr259Asn
NM_022454.4:c.775T>A MANE Select	NP_071899.1:p.Tyr259Asn