Canonical Allele Identifier: CA1234125

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169542862G>T , CM000663.2:g.169542862G>T	GRCh38
NC_000001.10:g.169512100G>T , CM000663.1:g.169512100G>T	GRCh37
NC_000001.9:g.167778724G>T	NCBI36
NG_011806.1:g.48670C>A , LRG_553:g.48670C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000130.5:c.2228C>A MANE Select	NP_000121.2:p.Ser743Ter
ENST00000367797.9:c.2228C>A MANE Select	ENSP00000356771.3:p.Ser743Ter
NM_000130.4:c.2228C>A , LRG_553t1:c.2228C>A	NP_000121.2:p.Ser743Ter
ENST00000367796.3:c.2243C>A	ENSP00000356770.3:p.Ser748Ter
ENST00000367797.7:c.2228C>A	ENSP00000356771.3:p.Ser743Ter
XM_017000660.2:c.1817C>A	XP_016856149.1:p.Ser606Ter