Canonical Allele Identifier: CA414919961

Gene: F8

Linked Data

• dbSNP Id: rs1165030572
• MyVariant Identifiers: chrX:g.154225292A>G (hg19) ; chrX:g.154997017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997017A>G , CM000685.2:g.154997017A>G	GRCh38
NC_000023.10:g.154225292A>G , CM000685.1:g.154225292A>G	GRCh37
NC_000023.9:g.153878486A>G	NCBI36
NG_011403.1:g.30707T>C
NG_011403.2:g.30707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.344T>C MANE Select	ENSP00000353393.4:p.Val115Ala
ENST00000647125.1:c.*130T>C	ENSP00000496062.1:n.*130T>C
ENST00000360256.8:c.344T>C	ENSP00000353393.4:p.Val115Ala
ENST00000423959.5:c.239T>C	ENSP00000409446.1:p.Val80Ala
ENST00000453950.1:c.326T>C	ENSP00000389153.1:p.Val109Ala
NM_000132.3:c.344T>C	NP_000123.1:p.Val115Ala
XM_011531126.1:c.239T>C	XP_011529428.1:p.Val80Ala
NM_000132.4:c.344T>C MANE Select	NP_000123.1:p.Val115Ala