Canonical Allele Identifier: CA255083

Gene: F8

Linked Data

• ClinVar Variation Id: 10196
• ClinVar RCV Id: RCV000010909 ; RCV000852250 ; RCV003656098
• dbSNP Id: rs137852405
• gnomAD v4: X-154969405-A-G
• MyVariant Identifiers: chrX:g.154197680A>G (hg19) ; chrX:g.154969405A>G (hg38)
• PubMed: PMID:1908096

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154969405A>G , CM000685.2:g.154969405A>G	GRCh38
NC_000023.10:g.154197680A>G , CM000685.1:g.154197680A>G	GRCh37
NC_000023.9:g.153850874A>G	NCBI36
NG_011403.1:g.58319T>C
NG_011403.2:g.58319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.935T>C MANE Select	ENSP00000353393.4:p.Phe312Ser
ENST00000647125.1:c.*811T>C	ENSP00000496062.1:n.*811T>C
ENST00000360256.8:c.935T>C	ENSP00000353393.4:p.Phe312Ser
NM_000132.3:c.935T>C	NP_000123.1:p.Phe312Ser
XM_011531126.1:c.830T>C	XP_011529428.1:p.Phe277Ser
NM_000132.4:c.935T>C MANE Select	NP_000123.1:p.Phe312Ser