Canonical Allele Identifier: CA1234067
Gene: F5 HGNC NCBI
COSMIC:
COSM3750564 (not active)
MyVariant.info:
GRCh38 chr1:g.169542517T>C
GRCh37 chr1:g.169511755T>C
Revel Score:
ENST00000367797 (MANE Select) 0.009
ENST00000367796 0.009
gnomAD v2:
1:169511755 T / C
gnomAD v3:
1:169542517 T / C
gnomAD v4:
chr1-169542517-T-C
Joint Max Group AF 0.38750441 (AMR)
Genomes Max Group AF 0.33405552 (AMR)
Exomes Max Group AF 0.40378858 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542517T>C , CM000663.2:g.169542517T>C GRCh38
NC_000001.10:g.169511755T>C , CM000663.1:g.169511755T>C GRCh37
NC_000001.9:g.167778379T>C NCBI36
NG_011806.1:g.49015A>G , LRG_553:g.49015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.2573A>G MANE Select ENSP00000356771.3:p.Lys858Arg
ENST00000367796.3:c.2588A>G ENSP00000356770.3:p.Lys863Arg
ENST00000367797.7:c.2573A>G ENSP00000356771.3:p.Lys858Arg
NM_000130.4:c.2573A>G , LRG_553t1:c.2573A>G NP_000121.2:p.Lys858Arg
XM_017000660.2:c.2162A>G XP_016856149.1:p.Lys721Arg
NM_000130.5:c.2573A>G MANE Select NP_000121.2:p.Lys858Arg
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