Canonical Allele Identifier: CA873357473

Gene: F8

Linked Data

• ClinVar Variation Id: 618641
• ClinVar RCV Id: RCV000757256
• dbSNP Id: rs1454692506
• MyVariant Identifiers: chrX:g.154996982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154996982del , CM000685.2:g.154996982del	GRCh38
NC_000023.10:g.154225257del , CM000685.1:g.154225257del	GRCh37
NC_000023.9:g.153878451del	NCBI36
NG_011403.1:g.30742del
NG_011403.2:g.30742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.379del MANE Select	ENSP00000353393.4:p.Ala127LeufsTer?
ENST00000647125.1:c.*165del	ENSP00000496062.1:n.*165del
ENST00000360256.8:c.379del	ENSP00000353393.4:p.Ala127LeufsTer?
ENST00000423959.5:c.274del	ENSP00000409446.1:p.Ala92LeufsTer?
ENST00000453950.1:c.361del	ENSP00000389153.1:p.Ala121LeufsTer?
NM_000132.3:c.379del	NP_000123.1:p.Ala127LeufsTer?
XM_011531126.1:c.274del	XP_011529428.1:p.Ala92LeufsTer?
NM_000132.4:c.379del MANE Select	NP_000123.1:p.Ala127LeufsTer?