Canonical Allele Identifier: CA255213

Gene: F8

Linked Data

• ClinVar Variation Id: 10320
• ClinVar RCV Id: RCV000011033
• dbSNP Id: rs137852466
• COSMIC: COSM5067669 ; COSM5067670
• MyVariant Identifiers: chrX:g.154091387C>T (hg19) ; chrX:g.154863112C>T (hg38)
• PubMed: PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863112C>T , CM000685.2:g.154863112C>T	GRCh38
NC_000023.10:g.154091387C>T , CM000685.1:g.154091387C>T	GRCh37
NC_000023.9:g.153744581C>T	NCBI36
NG_011403.1:g.164612G>A
NG_011403.2:g.164612G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6545G>A MANE Select	ENSP00000353393.4:p.Arg2182His
ENST00000644698.1:c.278G>A	ENSP00000495706.1:p.Arg93His
ENST00000330287.10:c.140G>A	ENSP00000327895.6:p.Arg47His
ENST00000360256.8:c.6545G>A	ENSP00000353393.4:p.Arg2182His
NM_000132.3:c.6545G>A	NP_000123.1:p.Arg2182His
NM_019863.2:c.140G>A	NP_063916.1:p.Arg47His
XM_011531126.1:c.6440G>A	XP_011529428.1:p.Arg2147His
NM_000132.4:c.6545G>A MANE Select	NP_000123.1:p.Arg2182His
NM_019863.3:c.140G>A	NP_063916.1:p.Arg47His