Canonical Allele Identifier: CA1234292

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169549812G>A , CM000663.2:g.169549812G>A	GRCh38
NC_000001.10:g.169519050G>A , CM000663.1:g.169519050G>A	GRCh37
NC_000001.9:g.167785674G>A	NCBI36
NG_011806.1:g.41720C>T , LRG_553:g.41720C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000130.5:c.1600C>T MANE Select	NP_000121.2:p.Arg534Ter
ENST00000367797.9:c.1600C>T MANE Select	ENSP00000356771.3:p.Arg534Ter
NM_000130.4:c.1600C>T , LRG_553t1:c.1600C>T	NP_000121.2:p.Arg534Ter
ENST00000367796.3:c.1600C>T	ENSP00000356770.3:p.Arg534Ter
ENST00000367797.7:c.1600C>T	ENSP00000356771.3:p.Arg534Ter
XM_017000660.2:c.1189C>T	XP_016856149.1:p.Arg397Ter