Canonical Allele Identifier: CA414896689

Gene: F8

Linked Data

• ClinVar Variation Id: 520827
• ClinVar RCV Id: RCV000623087
• dbSNP Id: rs1557271042
• MyVariant Identifiers: chrX:g.154065897C>T (hg19) ; chrX:g.154837622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837622C>T , CM000685.2:g.154837622C>T	GRCh38
NC_000023.10:g.154065897C>T , CM000685.1:g.154065897C>T	GRCh37
NC_000023.9:g.153719091C>T	NCBI36
NG_011403.1:g.190102G>A
NG_033065.1:g.2041G>A
NG_011403.2:g.190102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.7031G>A MANE Select	ENSP00000353393.4:p.Gly2344Asp
ENST00000644698.1:c.764G>A	ENSP00000495706.1:p.Gly255Asp
ENST00000330287.10:c.626G>A	ENSP00000327895.6:p.Gly209Asp
ENST00000360256.8:c.7031G>A	ENSP00000353393.4:p.Gly2344Asp
NM_000132.3:c.7031G>A	NP_000123.1:p.Gly2344Asp
NM_019863.2:c.626G>A	NP_063916.1:p.Gly209Asp
XM_011531126.1:c.6926G>A	XP_011529428.1:p.Gly2309Asp
NM_000132.4:c.7031G>A MANE Select	NP_000123.1:p.Gly2344Asp
NM_019863.3:c.626G>A	NP_063916.1:p.Gly209Asp