Canonical Allele Identifier: CA380084177

Gene: FSHB ARL14EP-DT

Linked Data

• gnomAD v4: 11-30233610-A-G
• MyVariant Identifiers: chr11:g.30255157A>G (hg19) ; chr11:g.30233610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.30233610A>G , CM000673.2:g.30233610A>G	GRCh38
NC_000011.9:g.30255157A>G , CM000673.1:g.30255157A>G	GRCh37
NC_000011.8:g.30211733A>G	NCBI36
NG_008144.1:g.7595A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254122.8:c.200A>G (FSHB)	ENSP00000254122.3:p.Lys67Arg
ENST00000533718.2:c.200A>G (FSHB) MANE Select	ENSP00000433424.1:p.Lys67Arg
ENST00000254122.7:c.200A>G (FSHB)	ENSP00000254122.3:p.Lys67Arg
ENST00000417547.1:c.200A>G (FSHB)	ENSP00000416606.1:p.Lys67Arg
ENST00000533718.1:c.200A>G (FSHB)	ENSP00000433424.1:p.Lys67Arg
NM_000510.2:c.200A>G (FSHB)	NP_000501.1:p.Lys67Arg
NM_001018080.1:c.200A>G (FSHB)	NP_001018090.1:p.Lys67Arg
XM_011519964.1:c.200A>G (FSHB)	XP_011518266.1:p.Lys67Arg
XR_931152.1:n.463+83280T>C (ARL14EP-DT)
XR_931153.1:n.284+83280T>C (ARL14EP-DT)
XR_931152.2:n.463+83280T>C (ARL14EP-DT)
NM_000510.3:c.200A>G (FSHB)	NP_000501.1:p.Lys67Arg
NM_001018080.2:c.200A>G (FSHB)	NP_001018090.1:p.Lys67Arg
NM_000510.4:c.200A>G (FSHB)	NP_000501.1:p.Lys67Arg
NM_001018080.3:c.200A>G (FSHB)	NP_001018090.1:p.Lys67Arg
NM_001382289.1:c.200A>G (FSHB) MANE Select	NP_001369218.1:p.Lys67Arg