Canonical Allele Identifier: CA121840

Gene: F10

Linked Data

• ClinVar Variation Id: 12059
• ClinVar RCV Id: RCV000012839
• dbSNP Id: rs121964948
• MyVariant Identifiers: chr13:g.113801804A>T (hg19) ; chr13:g.113147490A>T (hg38)
• PubMed: PMID:8845463 ; PMID:10746568

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113147490A>T , CM000675.2:g.113147490A>T	GRCh38
NC_000013.10:g.113801804A>T , CM000675.1:g.113801804A>T	GRCh37
NC_000013.9:g.112849805A>T	NCBI36
NG_009258.1:g.29692A>T , LRG_548:g.29692A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.859A>T MANE Select	ENSP00000364709.3:p.Arg287Trp
ENST00000375551.7:c.855+4A>T	ENSP00000364701.3:n.855+4A>T
ENST00000375559.7:c.859A>T	ENSP00000364709.3:p.Arg287Trp
ENST00000409306.5:c.859A>T	ENSP00000387092.1:p.Arg287Trp
NM_000504.3:c.859A>T , LRG_548t1:c.859A>T	NP_000495.1:p.Arg287Trp
NM_001312674.1:c.727A>T	NP_001299603.1:p.Arg243Trp
NM_001312675.1:c.855+4A>T	NP_001299604.1:n.855+4A>T
NM_000504.4:c.859A>T MANE Select	NP_000495.1:p.Arg287Trp
NM_001312674.2:c.727A>T	NP_001299603.1:p.Arg243Trp
NM_001312675.2:c.855+4A>T	NP_001299604.1:n.855+4A>T