Canonical Allele Identifier: CA414919391

Gene: F8

Linked Data

• dbSNP Id: rs1348276583
• MyVariant Identifiers: chrX:g.154221223C>G (hg19) ; chrX:g.154992948C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154992948C>G , CM000685.2:g.154992948C>G	GRCh38
NC_000023.10:g.154221223C>G , CM000685.1:g.154221223C>G	GRCh37
NC_000023.9:g.153874417C>G	NCBI36
NG_011403.1:g.34776G>C
NG_011403.2:g.34776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.589G>C MANE Select	ENSP00000353393.4:p.Val197Leu
ENST00000647125.1:c.*375G>C	ENSP00000496062.1:n.*375G>C
ENST00000360256.8:c.589G>C	ENSP00000353393.4:p.Val197Leu
ENST00000423959.5:c.484G>C	ENSP00000409446.1:p.Val162Leu
NM_000132.3:c.589G>C	NP_000123.1:p.Val197Leu
XM_011531126.1:c.484G>C	XP_011529428.1:p.Val162Leu
NM_000132.4:c.589G>C MANE Select	NP_000123.1:p.Val197Leu