Canonical Allele Identifier: CA343137915
Community Standard Title: NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169536616G>A , CM000663.2:g.169536616G>A GRCh38
NC_000001.10:g.169505854G>A , CM000663.1:g.169505854G>A GRCh37
NC_000001.9:g.167772478G>A NCBI36
NG_011806.1:g.54916C>T , LRG_553:g.54916C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.4861C>T MANE Select NP_000121.2:p.Arg1621Ter
ENST00000367797.9:c.4861C>T MANE Select ENSP00000356771.3:p.Arg1621Ter
NM_000130.4:c.4861C>T , LRG_553t1:c.4861C>T NP_000121.2:p.Arg1621Ter
ENST00000367796.3:c.4876C>T ENSP00000356770.3:p.Arg1626Ter
ENST00000367797.7:c.4861C>T ENSP00000356771.3:p.Arg1621Ter
XM_017000660.2:c.4450C>T XP_016856149.1:p.Arg1484Ter