Canonical Allele Identifier: CA519367453

Gene: F8

Linked Data

• dbSNP Id: rs2073443654
• MyVariant Identifiers: chrX:g.154197724C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154969449C>T , CM000685.2:g.154969449C>T	GRCh38
NC_000023.10:g.154197724C>T , CM000685.1:g.154197724C>T	GRCh37
NC_000023.9:g.153850918C>T	NCBI36
NG_011403.1:g.58275G>A
NG_011403.2:g.58275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.891G>A MANE Select	ENSP00000353393.4:p.Val297=
ENST00000647125.1:c.*767G>A	ENSP00000496062.1:n.*767G>A
ENST00000360256.8:c.891G>A	ENSP00000353393.4:p.Val297=
NM_000132.3:c.891G>A	NP_000123.1:p.Val297=
XM_011531126.1:c.786G>A	XP_011529428.1:p.Val262=
NM_000132.4:c.891G>A MANE Select	NP_000123.1:p.Val297=