Canonical Allele Identifier: CA414908716

Gene: F8

Linked Data

• COSMIC: COSM6118498 ; COSM6118499
• MyVariant Identifiers: chrX:g.154133184C>T (hg19) ; chrX:g.154904909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154904909C>T , CM000685.2:g.154904909C>T	GRCh38
NC_000023.10:g.154133184C>T , CM000685.1:g.154133184C>T	GRCh37
NC_000023.9:g.153786378C>T	NCBI36
NG_011403.1:g.122815G>A
NG_011403.2:g.122815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5488G>A MANE Select	ENSP00000353393.4:p.Glu1830Lys
ENST00000360256.8:c.5488G>A	ENSP00000353393.4:p.Glu1830Lys
NM_000132.3:c.5488G>A	NP_000123.1:p.Glu1830Lys
XM_011531126.1:c.5383G>A	XP_011529428.1:p.Glu1795Lys
NM_000132.4:c.5488G>A MANE Select	NP_000123.1:p.Glu1830Lys