Canonical Allele Identifier: CA414919433

Gene: F8

Linked Data

• dbSNP Id: rs1331549925
• MyVariant Identifiers: chrX:g.154221244C>A (hg19) ; chrX:g.154992969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154992969C>A , CM000685.2:g.154992969C>A	GRCh38
NC_000023.10:g.154221244C>A , CM000685.1:g.154221244C>A	GRCh37
NC_000023.9:g.153874438C>A	NCBI36
NG_011403.1:g.34755G>T
NG_011403.2:g.34755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.568G>T MANE Select	ENSP00000353393.4:p.Gly190Cys
ENST00000647125.1:c.*354G>T	ENSP00000496062.1:n.*354G>T
ENST00000360256.8:c.568G>T	ENSP00000353393.4:p.Gly190Cys
ENST00000423959.5:c.463G>T	ENSP00000409446.1:p.Gly155Cys
NM_000132.3:c.568G>T	NP_000123.1:p.Gly190Cys
XM_011531126.1:c.463G>T	XP_011529428.1:p.Gly155Cys
NM_000132.4:c.568G>T MANE Select	NP_000123.1:p.Gly190Cys