Canonical Allele Identifier: CA343119625
Community Standard Title: NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542144C>T , CM000663.2:g.169542144C>T GRCh38
NC_000001.10:g.169511382C>T , CM000663.1:g.169511382C>T GRCh37
NC_000001.9:g.167778006C>T NCBI36
NG_011806.1:g.49388G>A , LRG_553:g.49388G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.2946G>A MANE Select NP_000121.2:p.Trp982Ter
ENST00000367797.9:c.2946G>A MANE Select ENSP00000356771.3:p.Trp982Ter
NM_000130.4:c.2946G>A , LRG_553t1:c.2946G>A NP_000121.2:p.Trp982Ter
ENST00000367796.3:c.2961G>A ENSP00000356770.3:p.Trp987Ter
ENST00000367797.7:c.2946G>A ENSP00000356771.3:p.Trp982Ter
XM_017000660.2:c.2535G>A XP_016856149.1:p.Trp845Ter