Canonical Allele Identifier: CA414919368

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154221213T>A (hg19) ; chrX:g.154992938T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154992938T>A , CM000685.2:g.154992938T>A	GRCh38
NC_000023.10:g.154221213T>A , CM000685.1:g.154221213T>A	GRCh37
NC_000023.9:g.153874407T>A	NCBI36
NG_011403.1:g.34786A>T
NG_011403.2:g.34786A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.599A>T MANE Select	ENSP00000353393.4:p.Glu200Val
ENST00000647125.1:c.*385A>T	ENSP00000496062.1:n.*385A>T
ENST00000360256.8:c.599A>T	ENSP00000353393.4:p.Glu200Val
ENST00000423959.5:c.494A>T	ENSP00000409446.1:p.Glu165Val
NM_000132.3:c.599A>T	NP_000123.1:p.Glu200Val
XM_011531126.1:c.494A>T	XP_011529428.1:p.Glu165Val
NM_000132.4:c.599A>T MANE Select	NP_000123.1:p.Glu200Val