Canonical Allele Identifier: CA1233977

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169542002G>A , CM000663.2:g.169542002G>A	GRCh38
NC_000001.10:g.169511240G>A , CM000663.1:g.169511240G>A	GRCh37
NC_000001.9:g.167777864G>A	NCBI36
NG_011806.1:g.49530C>T , LRG_553:g.49530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000130.5:c.3088C>T MANE Select	NP_000121.2:p.Arg1030Ter
ENST00000367797.9:c.3088C>T MANE Select	ENSP00000356771.3:p.Arg1030Ter
NM_000130.4:c.3088C>T , LRG_553t1:c.3088C>T	NP_000121.2:p.Arg1030Ter
ENST00000367796.3:c.3103C>T	ENSP00000356770.3:p.Arg1035Ter
ENST00000367797.7:c.3088C>T	ENSP00000356771.3:p.Arg1030Ter
XM_017000660.2:c.2677C>T	XP_016856149.1:p.Arg893Ter