Canonical Allele Identifier: CA10568600

Gene: F8

Linked Data

• dbSNP Id: rs782481755
• ExAC: X:154225287 G / A
• COSMIC: COSM5530729 ; COSM5530730
• MyVariant Identifiers: chrX:g.154225287G>A (hg19) ; chrX:g.154997012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997012G>A , CM000685.2:g.154997012G>A	GRCh38
NC_000023.10:g.154225287G>A , CM000685.1:g.154225287G>A	GRCh37
NC_000023.9:g.153878481G>A	NCBI36
NG_011403.1:g.30712C>T
NG_011403.2:g.30712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.349C>T MANE Select	ENSP00000353393.4:p.Leu117Phe
ENST00000647125.1:c.*135C>T	ENSP00000496062.1:n.*135C>T
ENST00000360256.8:c.349C>T	ENSP00000353393.4:p.Leu117Phe
ENST00000423959.5:c.244C>T	ENSP00000409446.1:p.Leu82Phe
ENST00000453950.1:c.331C>T	ENSP00000389153.1:p.Leu111Phe
NM_000132.3:c.349C>T	NP_000123.1:p.Leu117Phe
XM_011531126.1:c.244C>T	XP_011529428.1:p.Leu82Phe
NM_000132.4:c.349C>T MANE Select	NP_000123.1:p.Leu117Phe