Canonical Allele Identifier: CA414897850

Gene: F8

Linked Data

• dbSNP Id: rs1353848654
• COSMIC: COSM5587751 ; COSM5587752
• MyVariant Identifiers: chrX:g.154066017C>T (hg19) ; chrX:g.154837742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837742C>T , CM000685.2:g.154837742C>T	GRCh38
NC_000023.10:g.154066017C>T , CM000685.1:g.154066017C>T	GRCh37
NC_000023.9:g.153719211C>T	NCBI36
NG_011403.1:g.189982G>A
NG_033065.1:g.1921G>A
NG_011403.2:g.189982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6911G>A MANE Select	ENSP00000353393.4:p.Gly2304Glu
ENST00000644698.1:c.644G>A	ENSP00000495706.1:p.Gly215Glu
ENST00000330287.10:c.506G>A	ENSP00000327895.6:p.Gly169Glu
ENST00000360256.8:c.6911G>A	ENSP00000353393.4:p.Gly2304Glu
NM_000132.3:c.6911G>A	NP_000123.1:p.Gly2304Glu
NM_019863.2:c.506G>A	NP_063916.1:p.Gly169Glu
XM_011531126.1:c.6806G>A	XP_011529428.1:p.Gly2269Glu
NM_000132.4:c.6911G>A MANE Select	NP_000123.1:p.Gly2304Glu
NM_019863.3:c.506G>A	NP_063916.1:p.Gly169Glu