Canonical Allele Identifier: CA414911750

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154185300G>T (hg19) ; chrX:g.154957025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154957025G>T , CM000685.2:g.154957025G>T	GRCh38
NC_000023.10:g.154185300G>T , CM000685.1:g.154185300G>T	GRCh37
NC_000023.9:g.153838494G>T	NCBI36
NG_011403.1:g.70699C>A
NG_011403.2:g.70699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1684C>A MANE Select	ENSP00000353393.4:p.Leu562Ile
ENST00000647125.1:c.*1560C>A	ENSP00000496062.1:n.*1560C>A
ENST00000360256.8:c.1684C>A	ENSP00000353393.4:p.Leu562Ile
NM_000132.3:c.1684C>A	NP_000123.1:p.Leu562Ile
XM_011531126.1:c.1579C>A	XP_011529428.1:p.Leu527Ile
NM_000132.4:c.1684C>A MANE Select	NP_000123.1:p.Leu562Ile