Canonical Allele Identifier: CA414906899

Gene: F8

Linked Data

• dbSNP Id: rs1278160877
• COSMIC: COSM6186566 ; COSM6186567
• MyVariant Identifiers: chrX:g.154091369C>T (hg19) ; chrX:g.154863094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863094C>T , CM000685.2:g.154863094C>T	GRCh38
NC_000023.10:g.154091369C>T , CM000685.1:g.154091369C>T	GRCh37
NC_000023.9:g.153744563C>T	NCBI36
NG_011403.1:g.164630G>A
NG_011403.2:g.164630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6563G>A MANE Select	ENSP00000353393.4:p.Cys2188Tyr
ENST00000644698.1:c.296G>A	ENSP00000495706.1:p.Cys99Tyr
ENST00000330287.10:c.158G>A	ENSP00000327895.6:p.Cys53Tyr
ENST00000360256.8:c.6563G>A	ENSP00000353393.4:p.Cys2188Tyr
NM_000132.3:c.6563G>A	NP_000123.1:p.Cys2188Tyr
NM_019863.2:c.158G>A	NP_063916.1:p.Cys53Tyr
XM_011531126.1:c.6458G>A	XP_011529428.1:p.Cys2153Tyr
NM_000132.4:c.6563G>A MANE Select	NP_000123.1:p.Cys2188Tyr
NM_019863.3:c.158G>A	NP_063916.1:p.Cys53Tyr