Canonical Allele Identifier: CA10568332

Gene: F8

Linked Data

• ClinVar Variation Id: 368122
• ClinVar RCV Id: RCV000359995
• dbSNP Id: rs2228152
• ExAC: X:154159682 T / C
• gnomAD v2: X-154159682-T-C
• gnomAD v3: X-154931407-T-C
• gnomAD v4: X-154931407-T-C
• MyVariant Identifiers: chrX:g.154159682T>C (hg19) ; chrX:g.154931407T>C (hg38)
• PubMed: PMID:17209060 ; PMID:18371163 ; PMID:22103590 ; PMID:23963097 ; PMID:24953131

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154931407T>C , CM000685.2:g.154931407T>C	GRCh38
NC_000023.10:g.154159682T>C , CM000685.1:g.154159682T>C	GRCh37
NC_000023.9:g.153812876T>C	NCBI36
NG_011403.1:g.96317A>G
NG_011403.2:g.96317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.2383A>G MANE Select	ENSP00000353393.4:p.Arg795Gly
ENST00000647125.1:c.*2049A>G	ENSP00000496062.1:n.*2049A>G
ENST00000360256.8:c.2383A>G	ENSP00000353393.4:p.Arg795Gly
NM_000132.3:c.2383A>G	NP_000123.1:p.Arg795Gly
XM_011531126.1:c.2278A>G	XP_011529428.1:p.Arg760Gly
NM_000132.4:c.2383A>G MANE Select	NP_000123.1:p.Arg795Gly