Canonical Allele Identifier: CA255116

Gene: F8

Linked Data

• ClinVar Variation Id: 10226
• ClinVar RCV Id: RCV000010939 ; RCV000727106 ; RCV003934821
• dbSNP Id: rs137852419
• ExAC: X:154185324 T / C
• gnomAD v2: X-154185324-T-C
• gnomAD v4: X-154957049-T-C
• MyVariant Identifiers: chrX:g.154185324T>C (hg19) ; chrX:g.154957049T>C (hg38)
• ERepo: CA255116/MONDO:0010602/071
• PubMed: PMID:7728145 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154957049T>C , CM000685.2:g.154957049T>C	GRCh38
NC_000023.10:g.154185324T>C , CM000685.1:g.154185324T>C	GRCh37
NC_000023.9:g.153838518T>C	NCBI36
NG_011403.1:g.70675A>G
NG_011403.2:g.70675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1660A>G MANE Select	ENSP00000353393.4:p.Ser554Gly
ENST00000647125.1:c.*1536A>G	ENSP00000496062.1:n.*1536A>G
ENST00000360256.8:c.1660A>G	ENSP00000353393.4:p.Ser554Gly
NM_000132.3:c.1660A>G	NP_000123.1:p.Ser554Gly
XM_011531126.1:c.1555A>G	XP_011529428.1:p.Ser519Gly
NM_000132.4:c.1660A>G MANE Select	NP_000123.1:p.Ser554Gly