Canonical Allele Identifier: CA414919929

Gene: F8

Linked Data

• ClinVar Variation Id: 618099
• ClinVar RCV Id: RCV000756108
• dbSNP Id: rs1569560006
• MyVariant Identifiers: chrX:g.154225277A>G (hg19) ; chrX:g.154997002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997002A>G , CM000685.2:g.154997002A>G	GRCh38
NC_000023.10:g.154225277A>G , CM000685.1:g.154225277A>G	GRCh37
NC_000023.9:g.153878471A>G	NCBI36
NG_011403.1:g.30722T>C
NG_011403.2:g.30722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.359T>C MANE Select	ENSP00000353393.4:p.Val120Ala
ENST00000647125.1:c.*145T>C	ENSP00000496062.1:n.*145T>C
ENST00000360256.8:c.359T>C	ENSP00000353393.4:p.Val120Ala
ENST00000423959.5:c.254T>C	ENSP00000409446.1:p.Val85Ala
ENST00000453950.1:c.341T>C	ENSP00000389153.1:p.Val114Ala
NM_000132.3:c.359T>C	NP_000123.1:p.Val120Ala
XM_011531126.1:c.254T>C	XP_011529428.1:p.Val85Ala
NM_000132.4:c.359T>C MANE Select	NP_000123.1:p.Val120Ala