Canonical Allele Identifier: CA414917192

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154194929C>A (hg19) ; chrX:g.154966654C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154966654C>A , CM000685.2:g.154966654C>A	GRCh38
NC_000023.10:g.154194929C>A , CM000685.1:g.154194929C>A	GRCh37
NC_000023.9:g.153848123C>A	NCBI36
NG_011403.1:g.61070G>T
NG_011403.2:g.61070G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1043G>T MANE Select	ENSP00000353393.4:p.Cys348Phe
ENST00000647125.1:c.*919G>T	ENSP00000496062.1:n.*919G>T
ENST00000360256.8:c.1043G>T	ENSP00000353393.4:p.Cys348Phe
NM_000132.3:c.1043G>T	NP_000123.1:p.Cys348Phe
XM_011531126.1:c.938G>T	XP_011529428.1:p.Cys313Phe
NM_000132.4:c.1043G>T MANE Select	NP_000123.1:p.Cys348Phe