Canonical Allele Identifier: CA414919616

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154221328C>T (hg19) ; chrX:g.154993053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993053C>T , CM000685.2:g.154993053C>T	GRCh38
NC_000023.10:g.154221328C>T , CM000685.1:g.154221328C>T	GRCh37
NC_000023.9:g.153874522C>T	NCBI36
NG_011403.1:g.34671G>A
NG_011403.2:g.34671G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.484G>A MANE Select	ENSP00000353393.4:p.Glu162Lys
ENST00000647125.1:c.*270G>A	ENSP00000496062.1:n.*270G>A
ENST00000360256.8:c.484G>A	ENSP00000353393.4:p.Glu162Lys
ENST00000423959.5:c.379G>A	ENSP00000409446.1:p.Glu127Lys
ENST00000453950.1:c.466G>A	ENSP00000389153.1:p.Glu156Lys
NM_000132.3:c.484G>A	NP_000123.1:p.Glu162Lys
XM_011531126.1:c.379G>A	XP_011529428.1:p.Glu127Lys
NM_000132.4:c.484G>A MANE Select	NP_000123.1:p.Glu162Lys