Canonical Allele Identifier: CA414896981

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154065932C>A (hg19) ; chrX:g.154837657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837657C>A , CM000685.2:g.154837657C>A	GRCh38
NC_000023.10:g.154065932C>A , CM000685.1:g.154065932C>A	GRCh37
NC_000023.9:g.153719126C>A	NCBI36
NG_011403.1:g.190067G>T
NG_033065.1:g.2006G>T
NG_011403.2:g.190067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6996G>T MANE Select	ENSP00000353393.4:p.Trp2332Cys
ENST00000644698.1:c.729G>T	ENSP00000495706.1:p.Trp243Cys
ENST00000330287.10:c.591G>T	ENSP00000327895.6:p.Trp197Cys
ENST00000360256.8:c.6996G>T	ENSP00000353393.4:p.Trp2332Cys
NM_000132.3:c.6996G>T	NP_000123.1:p.Trp2332Cys
NM_019863.2:c.591G>T	NP_063916.1:p.Trp197Cys
XM_011531126.1:c.6891G>T	XP_011529428.1:p.Trp2297Cys
NM_000132.4:c.6996G>T MANE Select	NP_000123.1:p.Trp2332Cys
NM_019863.3:c.591G>T	NP_063916.1:p.Trp197Cys