Canonical Allele Identifier: CA199220

Gene: FSHB ARL14EP-DT

Linked Data

• ClinVar Variation Id: 189329
• ClinVar RCV Id: RCV000169745
• dbSNP Id: rs5030777
• MyVariant Identifiers: chr11:g.30255255T>C (hg19) ; chr11:g.30233708T>C (hg38)
• PubMed: PMID:9806482 ; PMID:20488225

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.30233708T>C , CM000673.2:g.30233708T>C	GRCh38
NC_000011.9:g.30255255T>C , CM000673.1:g.30255255T>C	GRCh37
NC_000011.8:g.30211831T>C	NCBI36
NG_008144.1:g.7693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254122.8:c.298T>C (FSHB)	ENSP00000254122.3:p.Cys100Arg
ENST00000533718.2:c.298T>C (FSHB) MANE Select	ENSP00000433424.1:p.Cys100Arg
ENST00000254122.7:c.298T>C (FSHB)	ENSP00000254122.3:p.Cys100Arg
ENST00000417547.1:c.298T>C (FSHB)	ENSP00000416606.1:p.Cys100Arg
ENST00000533718.1:c.298T>C (FSHB)	ENSP00000433424.1:p.Cys100Arg
NM_000510.2:c.298T>C (FSHB)	NP_000501.1:p.Cys100Arg
NM_001018080.1:c.298T>C (FSHB)	NP_001018090.1:p.Cys100Arg
XM_011519964.1:c.298T>C (FSHB)	XP_011518266.1:p.Cys100Arg
XR_931152.1:n.463+83182A>G (ARL14EP-DT)
XR_931153.1:n.284+83182A>G (ARL14EP-DT)
XR_931152.2:n.463+83182A>G (ARL14EP-DT)
NM_000510.3:c.298T>C (FSHB)	NP_000501.1:p.Cys100Arg
NM_001018080.2:c.298T>C (FSHB)	NP_001018090.1:p.Cys100Arg
NM_000510.4:c.298T>C (FSHB)	NP_000501.1:p.Cys100Arg
NM_001018080.3:c.298T>C (FSHB)	NP_001018090.1:p.Cys100Arg
NM_001382289.1:c.298T>C (FSHB) MANE Select	NP_001369218.1:p.Cys100Arg