Canonical Allele Identifier: CA414920580

Gene: F8

Linked Data

• ClinVar Variation Id: 1330957
• ClinVar RCV Id: RCV001802616
• dbSNP Id: rs2124174443
• MyVariant Identifiers: chrX:g.154250754T>C (hg19) ; chrX:g.155022479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022479T>C , CM000685.2:g.155022479T>C	GRCh38
NC_000023.10:g.154250754T>C , CM000685.1:g.154250754T>C	GRCh37
NC_000023.9:g.153903948T>C	NCBI36
NG_011403.1:g.5245A>G
NG_011403.2:g.5245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.74A>G MANE Select	ENSP00000353393.4:p.Tyr25Cys
ENST00000647125.1:c.74A>G	ENSP00000496062.1:p.Tyr25Cys
ENST00000360256.8:c.74A>G	ENSP00000353393.4:p.Tyr25Cys
ENST00000423959.5:c.38+4301A>G	ENSP00000409446.1:n.38+4301A>G
ENST00000453950.1:c.56A>G	ENSP00000389153.1:p.Tyr19Cys
NM_000132.3:c.74A>G	NP_000123.1:p.Tyr25Cys
XM_011531126.1:c.38+4301A>G	XP_011529428.1:n.38+4301A>G
NM_000132.4:c.74A>G MANE Select	NP_000123.1:p.Tyr25Cys