Canonical Allele Identifier: CA1233713

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169540744G>A , CM000663.2:g.169540744G>A	GRCh38
NC_000001.10:g.169509982G>A , CM000663.1:g.169509982G>A	GRCh37
NC_000001.9:g.167776606G>A	NCBI36
NG_011806.1:g.50788C>T , LRG_553:g.50788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000130.5:c.4346C>T MANE Select	NP_000121.2:p.Pro1449Leu
ENST00000367797.9:c.4346C>T MANE Select	ENSP00000356771.3:p.Pro1449Leu
NM_000130.4:c.4346C>T , LRG_553t1:c.4346C>T	NP_000121.2:p.Pro1449Leu
ENST00000367796.3:c.4361C>T	ENSP00000356770.3:p.Pro1454Leu
ENST00000367797.7:c.4346C>T	ENSP00000356771.3:p.Pro1449Leu
XM_017000660.2:c.3935C>T	XP_016856149.1:p.Pro1312Leu