Canonical Allele Identifier: CA10630711

Gene: FSHB ARL14EP-DT

Linked Data

• ClinVar Variation Id: 304273
• ClinVar RCV Id: RCV000263283
• dbSNP Id: rs755811230
• MyVariant Identifiers: chr11:g.30252567C>G (hg19) ; chr11:g.30231020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.30231020C>G , CM000673.2:g.30231020C>G	GRCh38
NC_000011.9:g.30252567C>G , CM000673.1:g.30252567C>G	GRCh37
NC_000011.8:g.30209143C>G	NCBI36
NG_008144.1:g.5005C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254122.8:c.-65C>G (FSHB)	ENSP00000254122.3:n.-65C>G
ENST00000533718.2:c.-66C>G (FSHB) MANE Select	ENSP00000433424.1:n.-66C>G
ENST00000254122.7:c.-65C>G (FSHB)	ENSP00000254122.3:n.-65C>G
ENST00000417547.1:c.-35C>G (FSHB)	ENSP00000416606.1:n.-35C>G
NM_000510.2:c.-65C>G (FSHB)	NP_000501.1:n.-65C>G
NM_001018080.1:c.-35C>G (FSHB)	NP_001018090.1:n.-35C>G
XM_011519964.1:c.-38+254C>G (FSHB)	XP_011518266.1:n.-38+254C>G
XR_931152.1:n.463+85870G>C (ARL14EP-DT)
XR_931153.1:n.284+85870G>C (ARL14EP-DT)
XR_931152.2:n.463+85870G>C (ARL14EP-DT)
NM_000510.3:c.-65C>G (FSHB)	NP_000501.1:n.-65C>G
NM_001018080.2:c.-35C>G (FSHB)	NP_001018090.1:n.-35C>G
NM_000510.4:c.-65C>G (FSHB)	NP_000501.1:n.-65C>G
NM_001018080.3:c.-35C>G (FSHB)	NP_001018090.1:n.-35C>G
NM_001382289.1:c.-66C>G (FSHB) MANE Select	NP_001369218.1:n.-66C>G