Canonical Allele Identifier: CA255211

Gene: F8

Linked Data

• ClinVar Variation Id: 10318
• ClinVar RCV Id: RCV000011031 ; RCV003103985
• dbSNP Id: rs137852464
• ExAC: X:154091400 G / A
• gnomAD v4: X-154863125-G-A
• COSMIC: COSM1292966 ; COSM1292967
• MyVariant Identifiers: chrX:g.154091400G>A (hg19) ; chrX:g.154863125G>A (hg38)
• PubMed: PMID:1301932 ; PMID:1301960 ; PMID:1924291 ; PMID:7728145 ; PMID:8449505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863125G>A , CM000685.2:g.154863125G>A	GRCh38
NC_000023.10:g.154091400G>A , CM000685.1:g.154091400G>A	GRCh37
NC_000023.9:g.153744594G>A	NCBI36
NG_011403.1:g.164599C>T
NG_011403.2:g.164599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6532C>T MANE Select	ENSP00000353393.4:p.Arg2178Cys
ENST00000644698.1:c.265C>T	ENSP00000495706.1:p.Arg89Cys
ENST00000330287.10:c.127C>T	ENSP00000327895.6:p.Arg43Cys
ENST00000360256.8:c.6532C>T	ENSP00000353393.4:p.Arg2178Cys
NM_000132.3:c.6532C>T	NP_000123.1:p.Arg2178Cys
NM_019863.2:c.127C>T	NP_063916.1:p.Arg43Cys
XM_011531126.1:c.6427C>T	XP_011529428.1:p.Arg2143Cys
NM_000132.4:c.6532C>T MANE Select	NP_000123.1:p.Arg2178Cys
NM_019863.3:c.127C>T	NP_063916.1:p.Arg43Cys