Canonical Allele Identifier: CA414914469

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154194284C>A (hg19) ; chrX:g.154966009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154966009C>A , CM000685.2:g.154966009C>A	GRCh38
NC_000023.10:g.154194284C>A , CM000685.1:g.154194284C>A	GRCh37
NC_000023.9:g.153847478C>A	NCBI36
NG_011403.1:g.61715G>T
NG_011403.2:g.61715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1404G>T MANE Select	ENSP00000353393.4:p.Leu468Phe
ENST00000647125.1:c.*1280G>T	ENSP00000496062.1:n.*1280G>T
ENST00000360256.8:c.1404G>T	ENSP00000353393.4:p.Leu468Phe
ENST00000483822.2:n.224G>T
NM_000132.3:c.1404G>T	NP_000123.1:p.Leu468Phe
XM_011531126.1:c.1299G>T	XP_011529428.1:p.Leu433Phe
NM_000132.4:c.1404G>T MANE Select	NP_000123.1:p.Leu468Phe