Canonical Allele Identifier: CA414919596

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154221319G>T (hg19) ; chrX:g.154993044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993044G>T , CM000685.2:g.154993044G>T	GRCh38
NC_000023.10:g.154221319G>T , CM000685.1:g.154221319G>T	GRCh37
NC_000023.9:g.153874513G>T	NCBI36
NG_011403.1:g.34680C>A
NG_011403.2:g.34680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.493C>A MANE Select	ENSP00000353393.4:p.Pro165Thr
ENST00000647125.1:c.*279C>A	ENSP00000496062.1:n.*279C>A
ENST00000360256.8:c.493C>A	ENSP00000353393.4:p.Pro165Thr
ENST00000423959.5:c.388C>A	ENSP00000409446.1:p.Pro130Thr
ENST00000453950.1:c.475C>A	ENSP00000389153.1:p.Pro159Thr
NM_000132.3:c.493C>A	NP_000123.1:p.Pro165Thr
XM_011531126.1:c.388C>A	XP_011529428.1:p.Pro130Thr
NM_000132.4:c.493C>A MANE Select	NP_000123.1:p.Pro165Thr