Canonical Allele Identifier: CA255048

Gene: F8

Linked Data

• ClinVar Variation Id: 10156
• ClinVar RCV Id: RCV000010869 ; RCV002247317
• dbSNP Id: rs137852379
• ExAC: X:154250707 C / A
• gnomAD v2: X-154250707-C-A
• gnomAD v3: X-155022432-C-A
• gnomAD v4: X-155022432-C-A
• COSMIC: COSM756746 ; COSM756747
• MyVariant Identifiers: chrX:g.154250707C>A (hg19) ; chrX:g.155022432C>A (hg38)
• PubMed: PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022432C>A , CM000685.2:g.155022432C>A	GRCh38
NC_000023.10:g.154250707C>A , CM000685.1:g.154250707C>A	GRCh37
NC_000023.9:g.153903901C>A	NCBI36
NG_011403.1:g.5292G>T
NG_011403.2:g.5292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.121G>T MANE Select	ENSP00000353393.4:p.Gly41Cys
ENST00000647125.1:c.121G>T	ENSP00000496062.1:p.Asp41Tyr
ENST00000360256.8:c.121G>T	ENSP00000353393.4:p.Gly41Cys
ENST00000423959.5:c.38+4348G>T	ENSP00000409446.1:n.38+4348G>T
ENST00000453950.1:c.103G>T	ENSP00000389153.1:p.Gly35Cys
NM_000132.3:c.121G>T	NP_000123.1:p.Gly41Cys
XM_011531126.1:c.38+4348G>T	XP_011529428.1:n.38+4348G>T
NM_000132.4:c.121G>T MANE Select	NP_000123.1:p.Gly41Cys