Canonical Allele Identifier: CA414920061

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154225337T>A (hg19) ; chrX:g.154997062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997062T>A , CM000685.2:g.154997062T>A	GRCh38
NC_000023.10:g.154225337T>A , CM000685.1:g.154225337T>A	GRCh37
NC_000023.9:g.153878531T>A	NCBI36
NG_011403.1:g.30662A>T
NG_011403.2:g.30662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.299A>T MANE Select	ENSP00000353393.4:p.Tyr100Phe
ENST00000647125.1:c.*85A>T	ENSP00000496062.1:n.*85A>T
ENST00000360256.8:c.299A>T	ENSP00000353393.4:p.Tyr100Phe
ENST00000423959.5:c.194A>T	ENSP00000409446.1:p.Tyr65Phe
ENST00000453950.1:c.281A>T	ENSP00000389153.1:p.Tyr94Phe
NM_000132.3:c.299A>T	NP_000123.1:p.Tyr100Phe
XM_011531126.1:c.194A>T	XP_011529428.1:p.Tyr65Phe
NM_000132.4:c.299A>T MANE Select	NP_000123.1:p.Tyr100Phe