Canonical Allele Identifier: CA10567755

Gene: F8

Linked Data

• ClinVar Variation Id: 2318048
• ClinVar RCV Id: RCV002888616
• dbSNP Id: rs781890169
• ExAC: X:154088789 C / T
• gnomAD v2: X-154088789-C-T
• gnomAD v3: X-154860514-C-T
• gnomAD v4: X-154860514-C-T
• MyVariant Identifiers: chrX:g.154088789C>T (hg19) ; chrX:g.154860514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860514C>T , CM000685.2:g.154860514C>T	GRCh38
NC_000023.10:g.154088789C>T , CM000685.1:g.154088789C>T	GRCh37
NC_000023.9:g.153741983C>T	NCBI36
NG_011403.1:g.167210G>A
NG_011403.2:g.167210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6818G>A MANE Select	ENSP00000353393.4:p.Ser2273Asn
ENST00000644698.1:c.551G>A	ENSP00000495706.1:p.Ser184Asn
ENST00000330287.10:c.413G>A	ENSP00000327895.6:p.Ser138Asn
ENST00000360256.8:c.6818G>A	ENSP00000353393.4:p.Ser2273Asn
NM_000132.3:c.6818G>A	NP_000123.1:p.Ser2273Asn
NM_019863.2:c.413G>A	NP_063916.1:p.Ser138Asn
XM_011531126.1:c.6713G>A	XP_011529428.1:p.Ser2238Asn
NM_000132.4:c.6818G>A MANE Select	NP_000123.1:p.Ser2273Asn
NM_019863.3:c.413G>A	NP_063916.1:p.Ser138Asn