Canonical Allele Identifier: CA414904894

Gene: F8

Linked Data

• dbSNP Id: rs1343914464
• MyVariant Identifiers: chrX:g.154130385C>T (hg19) ; chrX:g.154902110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154902110C>T , CM000685.2:g.154902110C>T	GRCh38
NC_000023.10:g.154130385C>T , CM000685.1:g.154130385C>T	GRCh37
NC_000023.9:g.153783579C>T	NCBI36
NG_011403.1:g.125614G>A
NG_011403.2:g.125614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6056G>A MANE Select	ENSP00000353393.4:p.Cys2019Tyr
ENST00000360256.8:c.6056G>A	ENSP00000353393.4:p.Cys2019Tyr
NM_000132.3:c.6056G>A	NP_000123.1:p.Cys2019Tyr
XM_011531126.1:c.5951G>A	XP_011529428.1:p.Cys1984Tyr
NM_000132.4:c.6056G>A MANE Select	NP_000123.1:p.Cys2019Tyr