Canonical Allele Identifier: CA10567761

Gene: F8

Linked Data

• ClinVar Variation Id: 225353
• ClinVar RCV Id: RCV000490278
• dbSNP Id: rs782654096
• ExAC: X:154088883 C / T
• gnomAD v2: X-154088883-C-T
• gnomAD v3: X-154860608-C-T
• gnomAD v4: X-154860608-C-T
• MyVariant Identifiers: chrX:g.154088883C>T (hg19) ; chrX:g.154860608C>T (hg38)
• PubMed: PMID:10910913 ; PMID:15471879
• ERepo: CA10567761/MONDO:0010602/071

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860608C>T , CM000685.2:g.154860608C>T	GRCh38
NC_000023.10:g.154088883C>T , CM000685.1:g.154088883C>T	GRCh37
NC_000023.9:g.153742077C>T	NCBI36
NG_011403.1:g.167116G>A
NG_011403.2:g.167116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6724G>A MANE Select	ENSP00000353393.4:p.Val2242Met
ENST00000644698.1:c.457G>A	ENSP00000495706.1:p.Val153Met
ENST00000330287.10:c.319G>A	ENSP00000327895.6:p.Val107Met
ENST00000360256.8:c.6724G>A	ENSP00000353393.4:p.Val2242Met
NM_000132.3:c.6724G>A	NP_000123.1:p.Val2242Met
NM_019863.2:c.319G>A	NP_063916.1:p.Val107Met
XM_011531126.1:c.6619G>A	XP_011529428.1:p.Val2207Met
NM_000132.4:c.6724G>A MANE Select	NP_000123.1:p.Val2242Met
NM_019863.3:c.319G>A	NP_063916.1:p.Val107Met