Canonical Allele Identifier: CA414920615

Gene: F8

Linked Data

• COSMIC: COSM4589329 ; COSM4589330
• MyVariant Identifiers: chrX:g.154250769G>T (hg19) ; chrX:g.155022494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022494G>T , CM000685.2:g.155022494G>T	GRCh38
NC_000023.10:g.154250769G>T , CM000685.1:g.154250769G>T	GRCh37
NC_000023.9:g.153903963G>T	NCBI36
NG_011403.1:g.5230C>A
NG_011403.2:g.5230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.59C>A MANE Select	ENSP00000353393.4:p.Ala20Asp
ENST00000647125.1:c.59C>A	ENSP00000496062.1:p.Ala20Asp
ENST00000360256.8:c.59C>A	ENSP00000353393.4:p.Ala20Asp
ENST00000423959.5:c.38+4286C>A	ENSP00000409446.1:n.38+4286C>A
ENST00000453950.1:c.41C>A	ENSP00000389153.1:p.Ala14Asp
NM_000132.3:c.59C>A	NP_000123.1:p.Ala20Asp
XM_011531126.1:c.38+4286C>A	XP_011529428.1:n.38+4286C>A
NM_000132.4:c.59C>A MANE Select	NP_000123.1:p.Ala20Asp