Canonical Allele Identifier: CA255217

Gene: F8

Linked Data

• ClinVar Variation Id: 10326
• ClinVar RCV Id: RCV000011039
• dbSNP Id: rs387906464
• MyVariant Identifiers: chrX:g.154090017del (hg19) ; chrX:g.154861742del (hg38)
• PubMed: PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154861744del , CM000685.2:g.154861744del	GRCh38
NC_000023.10:g.154090019del , CM000685.1:g.154090019del	GRCh37
NC_000023.9:g.153743213del	NCBI36
NG_011403.1:g.165982del
NG_011403.2:g.165982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6699del MANE Select	ENSP00000353393.4:p.Arg2234GlyfsTer9
ENST00000644698.1:c.432del	ENSP00000495706.1:p.Arg145GlyfsTer9
ENST00000330287.10:c.294del	ENSP00000327895.6:p.Arg99GlyfsTer9
ENST00000360256.8:c.6699del	ENSP00000353393.4:p.Arg2234GlyfsTer9
NM_000132.3:c.6699del	NP_000123.1:p.Arg2234GlyfsTer9
NM_019863.2:c.294del	NP_063916.1:p.Arg99GlyfsTer9
XM_011531126.1:c.6594del	XP_011529428.1:p.Arg2199GlyfsTer9
NM_000132.4:c.6699del MANE Select	NP_000123.1:p.Arg2234GlyfsTer9
NM_019863.3:c.294del	NP_063916.1:p.Arg99GlyfsTer9