Canonical Allele Identifier: CA380084351

Gene: FSHB ARL14EP-DT

Linked Data

• COSMIC: COSM4032302
• MyVariant Identifiers: chr11:g.30255240C>A (hg19) ; chr11:g.30233693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.30233693C>A , CM000673.2:g.30233693C>A	GRCh38
NC_000011.9:g.30255240C>A , CM000673.1:g.30255240C>A	GRCh37
NC_000011.8:g.30211816C>A	NCBI36
NG_008144.1:g.7678C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000254122.8:c.283C>A (FSHB)	ENSP00000254122.3:p.Pro95Thr
ENST00000533718.2:c.283C>A (FSHB) MANE Select	ENSP00000433424.1:p.Pro95Thr
ENST00000254122.7:c.283C>A (FSHB)	ENSP00000254122.3:p.Pro95Thr
ENST00000417547.1:c.283C>A (FSHB)	ENSP00000416606.1:p.Pro95Thr
ENST00000533718.1:c.283C>A (FSHB)	ENSP00000433424.1:p.Pro95Thr
NM_000510.2:c.283C>A (FSHB)	NP_000501.1:p.Pro95Thr
NM_001018080.1:c.283C>A (FSHB)	NP_001018090.1:p.Pro95Thr
XM_011519964.1:c.283C>A (FSHB)	XP_011518266.1:p.Pro95Thr
XR_931152.1:n.463+83197G>T (ARL14EP-DT)
XR_931153.1:n.284+83197G>T (ARL14EP-DT)
XR_931152.2:n.463+83197G>T (ARL14EP-DT)
NM_000510.3:c.283C>A (FSHB)	NP_000501.1:p.Pro95Thr
NM_001018080.2:c.283C>A (FSHB)	NP_001018090.1:p.Pro95Thr
NM_000510.4:c.283C>A (FSHB)	NP_000501.1:p.Pro95Thr
NM_001018080.3:c.283C>A (FSHB)	NP_001018090.1:p.Pro95Thr
NM_001382289.1:c.283C>A (FSHB) MANE Select	NP_001369218.1:p.Pro95Thr