Canonical Allele Identifier: CA10568107

Gene: F8

Linked Data

• ClinVar Variation Id: 444838
• ClinVar RCV Id: RCV000513611 ; RCV001169190 ; RCV002476025
• dbSNP Id: rs1800294
• ExAC: X:154157623 A / G
• gnomAD v2: X-154157623-A-G
• gnomAD v3: X-154929348-A-G
• gnomAD v4: X-154929348-A-G
• MyVariant Identifiers: chrX:g.154157623A>G (hg19) ; chrX:g.154929348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154929348A>G , CM000685.2:g.154929348A>G	GRCh38
NC_000023.10:g.154157623A>G , CM000685.1:g.154157623A>G	GRCh37
NC_000023.9:g.153810817A>G	NCBI36
NG_011403.1:g.98376T>C
NG_011403.2:g.98376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.4442T>C MANE Select	ENSP00000353393.4:p.Leu1481Pro
ENST00000360256.8:c.4442T>C	ENSP00000353393.4:p.Leu1481Pro
NM_000132.3:c.4442T>C	NP_000123.1:p.Leu1481Pro
XM_011531126.1:c.4337T>C	XP_011529428.1:p.Leu1446Pro
NM_000132.4:c.4442T>C MANE Select	NP_000123.1:p.Leu1481Pro