Canonical Allele Identifier: CA1233747
Community Standard Title: NM_000130.5(F5):c.4145C>A (p.Thr1382Lys)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169540945G>T , CM000663.2:g.169540945G>T GRCh38
NC_000001.10:g.169510183G>T , CM000663.1:g.169510183G>T GRCh37
NC_000001.9:g.167776807G>T NCBI36
NG_011806.1:g.50587C>A , LRG_553:g.50587C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.4145C>A MANE Select NP_000121.2:p.Thr1382Lys
ENST00000367797.9:c.4145C>A MANE Select ENSP00000356771.3:p.Thr1382Lys
NM_000130.4:c.4145C>A , LRG_553t1:c.4145C>A NP_000121.2:p.Thr1382Lys
ENST00000367796.3:c.4160C>A ENSP00000356770.3:p.Thr1387Lys
ENST00000367797.7:c.4145C>A ENSP00000356771.3:p.Thr1382Lys
XM_017000660.2:c.3734C>A XP_016856149.1:p.Thr1245Lys