Canonical Allele Identifier: CA414912182

Gene: F8

Linked Data

• COSMIC: COSM4108244 ; COSM4108245
• MyVariant Identifiers: chrX:g.154185408C>A (hg19) ; chrX:g.154957133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154957133C>A , CM000685.2:g.154957133C>A	GRCh38
NC_000023.10:g.154185408C>A , CM000685.1:g.154185408C>A	GRCh37
NC_000023.9:g.153838602C>A	NCBI36
NG_011403.1:g.70591G>T
NG_011403.2:g.70591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1576G>T MANE Select	ENSP00000353393.4:p.Glu526Ter
ENST00000647125.1:c.*1452G>T	ENSP00000496062.1:n.*1452G>T
ENST00000360256.8:c.1576G>T	ENSP00000353393.4:p.Glu526Ter
NM_000132.3:c.1576G>T	NP_000123.1:p.Glu526Ter
XM_011531126.1:c.1471G>T	XP_011529428.1:p.Glu491Ter
NM_000132.4:c.1576G>T MANE Select	NP_000123.1:p.Glu526Ter