Canonical Allele Identifier: CA255210

Gene: F8

Linked Data

• ClinVar Variation Id: 10317
• ClinVar RCV Id: RCV000011030
• dbSNP Id: rs137852463
• MyVariant Identifiers: chrX:g.154091414G>A (hg19) ; chrX:g.154863139G>A (hg38)
• PubMed: PMID:1301960

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863139G>A , CM000685.2:g.154863139G>A	GRCh38
NC_000023.10:g.154091414G>A , CM000685.1:g.154091414G>A	GRCh37
NC_000023.9:g.153744608G>A	NCBI36
NG_011403.1:g.164585C>T
NG_011403.2:g.164585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6518C>T MANE Select	ENSP00000353393.4:p.Thr2173Ile
ENST00000644698.1:c.251C>T	ENSP00000495706.1:p.Thr84Ile
ENST00000330287.10:c.113C>T	ENSP00000327895.6:p.Thr38Ile
ENST00000360256.8:c.6518C>T	ENSP00000353393.4:p.Thr2173Ile
NM_000132.3:c.6518C>T	NP_000123.1:p.Thr2173Ile
NM_019863.2:c.113C>T	NP_063916.1:p.Thr38Ile
XM_011531126.1:c.6413C>T	XP_011529428.1:p.Thr2138Ile
NM_000132.4:c.6518C>T MANE Select	NP_000123.1:p.Thr2173Ile
NM_019863.3:c.113C>T	NP_063916.1:p.Thr38Ile