Canonical Allele Identifier: CA1234296
Gene: F5 HGNC NCBI
COSMIC:
COSM4984946 (not active)
MyVariant.info:
GRCh38 chr1:g.169549874C>T
GRCh37 chr1:g.169519112C>T
Revel Score:
ENST00000367797 (MANE Select) 0.442
ENST00000367796 0.442
gnomAD v2:
1:169519112 C / T
gnomAD v3:
1:169549874 C / T
gnomAD v4:
chr1-169549874-C-T
Joint Max Group AF 0.643144 (EAS)
Genomes Max Group AF 0.62444105 (EAS)
Exomes Max Group AF 0.64361713 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549874C>T , CM000663.2:g.169549874C>T GRCh38
NC_000001.10:g.169519112C>T , CM000663.1:g.169519112C>T GRCh37
NC_000001.9:g.167785736C>T NCBI36
NG_011806.1:g.41658G>A , LRG_553:g.41658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1538G>A MANE Select ENSP00000356771.3:p.Arg513Lys
ENST00000367796.3:c.1538G>A ENSP00000356770.3:p.Arg513Lys
ENST00000367797.7:c.1538G>A ENSP00000356771.3:p.Arg513Lys
NM_000130.4:c.1538G>A , LRG_553t1:c.1538G>A NP_000121.2:p.Arg513Lys
XM_017000660.2:c.1127G>A XP_016856149.1:p.Arg376Lys
NM_000130.5:c.1538G>A MANE Select NP_000121.2:p.Arg513Lys
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