Canonical Allele Identifier: CA10567784

Gene: F8

Linked Data

• ClinVar Variation Id: 368117
• ClinVar RCV Id: RCV000403190 ; RCV002252106 ; RCV003392221
• dbSNP Id: rs782198570
• ExAC: X:154090093 T / C
• gnomAD v2: X-154090093-T-C
• gnomAD v3: X-154861818-T-C
• gnomAD v4: X-154861818-T-C
• MyVariant Identifiers: chrX:g.154090093T>C (hg19) ; chrX:g.154861818T>C (hg38)
• PubMed: PMID:15921397 ; PMID:19473423 ; PMID:21645180 ; PMID:26879396

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154861818T>C , CM000685.2:g.154861818T>C	GRCh38
NC_000023.10:g.154090093T>C , CM000685.1:g.154090093T>C	GRCh37
NC_000023.9:g.153743287T>C	NCBI36
NG_011403.1:g.165906A>G
NG_011403.2:g.165906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6623A>G MANE Select	ENSP00000353393.4:p.Gln2208Arg
ENST00000644698.1:c.356A>G	ENSP00000495706.1:p.Gln119Arg
ENST00000330287.10:c.218A>G	ENSP00000327895.6:p.Gln73Arg
ENST00000360256.8:c.6623A>G	ENSP00000353393.4:p.Gln2208Arg
NM_000132.3:c.6623A>G	NP_000123.1:p.Gln2208Arg
NM_019863.2:c.218A>G	NP_063916.1:p.Gln73Arg
XM_011531126.1:c.6518A>G	XP_011529428.1:p.Gln2173Arg
NM_000132.4:c.6623A>G MANE Select	NP_000123.1:p.Gln2208Arg
NM_019863.3:c.218A>G	NP_063916.1:p.Gln73Arg