Canonical Allele Identifier: CA343118111
Gene: F5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541691T>G , CM000663.2:g.169541691T>G GRCh38
NC_000001.10:g.169510929T>G , CM000663.1:g.169510929T>G GRCh37
NC_000001.9:g.167777553T>G NCBI36
NG_011806.1:g.49841A>C , LRG_553:g.49841A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3399A>C MANE Select ENSP00000356771.3:p.Gln1133His
ENST00000367796.3:c.3414A>C ENSP00000356770.3:p.Gln1138His
ENST00000367797.7:c.3399A>C ENSP00000356771.3:p.Gln1133His
NM_000130.4:c.3399A>C , LRG_553t1:c.3399A>C NP_000121.2:p.Gln1133His
XM_017000660.2:c.2988A>C XP_016856149.1:p.Gln996His
NM_000130.5:c.3399A>C MANE Select NP_000121.2:p.Gln1133His