Canonical Allele Identifier: CA414919600

Gene: F8

Linked Data

• dbSNP Id: rs2073597068
• MyVariant Identifiers: chrX:g.154221322C>A (hg19) ; chrX:g.154993047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993047C>A , CM000685.2:g.154993047C>A	GRCh38
NC_000023.10:g.154221322C>A , CM000685.1:g.154221322C>A	GRCh37
NC_000023.9:g.153874516C>A	NCBI36
NG_011403.1:g.34677G>T
NG_011403.2:g.34677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.490G>T MANE Select	ENSP00000353393.4:p.Gly164Cys
ENST00000647125.1:c.*276G>T	ENSP00000496062.1:n.*276G>T
ENST00000360256.8:c.490G>T	ENSP00000353393.4:p.Gly164Cys
ENST00000423959.5:c.385G>T	ENSP00000409446.1:p.Gly129Cys
ENST00000453950.1:c.472G>T	ENSP00000389153.1:p.Gly158Cys
NM_000132.3:c.490G>T	NP_000123.1:p.Gly164Cys
XM_011531126.1:c.385G>T	XP_011529428.1:p.Gly129Cys
NM_000132.4:c.490G>T MANE Select	NP_000123.1:p.Gly164Cys