Canonical Allele Identifier: CA10567911

Gene: F8

Linked Data

• ClinVar Variation Id: 439683
• ClinVar RCV Id: RCV000851606 ; RCV002248743 ; RCV003103799 ; RCV002476015 ; RCV001267618 ; RCV001803794
• dbSNP Id: rs369414658
• ExAC: X:154130352 C / T
• gnomAD v2: X-154130352-C-T
• gnomAD v3: X-154902077-C-T
• gnomAD v4: X-154902077-C-T
• MyVariant Identifiers: chrX:g.154130352C>T (hg19) ; chrX:g.154902077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154902077C>T , CM000685.2:g.154902077C>T	GRCh38
NC_000023.10:g.154130352C>T , CM000685.1:g.154130352C>T	GRCh37
NC_000023.9:g.153783546C>T	NCBI36
NG_011403.1:g.125647G>A
NG_011403.2:g.125647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6089G>A MANE Select	ENSP00000353393.4:p.Ser2030Asn
ENST00000360256.8:c.6089G>A	ENSP00000353393.4:p.Ser2030Asn
NM_000132.3:c.6089G>A	NP_000123.1:p.Ser2030Asn
XM_011531126.1:c.5984G>A	XP_011529428.1:p.Ser1995Asn
NM_000132.4:c.6089G>A MANE Select	NP_000123.1:p.Ser2030Asn