Canonical Allele Identifier: CA10567921

Gene: F8

Linked Data

• ClinVar Variation Id: 2477679
• ClinVar RCV Id: RCV003204015
• dbSNP Id: rs781882407
• ExAC: X:154132202 C / A
• gnomAD v2: X-154132202-C-A
• gnomAD v3: X-154903927-C-A
• gnomAD v4: X-154903927-C-A
• MyVariant Identifiers: chrX:g.154132202C>A (hg19) ; chrX:g.154903927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154903927C>A , CM000685.2:g.154903927C>A	GRCh38
NC_000023.10:g.154132202C>A , CM000685.1:g.154132202C>A	GRCh37
NC_000023.9:g.153785396C>A	NCBI36
NG_011403.1:g.123797G>T
NG_011403.2:g.123797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5977G>T MANE Select	ENSP00000353393.4:p.Ala1993Ser
ENST00000360256.8:c.5977G>T	ENSP00000353393.4:p.Ala1993Ser
NM_000132.3:c.5977G>T	NP_000123.1:p.Ala1993Ser
XM_011531126.1:c.5872G>T	XP_011529428.1:p.Ala1958Ser
NM_000132.4:c.5977G>T MANE Select	NP_000123.1:p.Ala1993Ser