Canonical Allele Identifier: CA1234592
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169560616T>C
GRCh37 chr1:g.169529854T>C
Revel Score:
ENST00000367797 (MANE Select) 0.887
ENST00000367796 0.887
ENST00000546081 0.887
gnomAD v2:
1:169529854 T / C
gnomAD v3:
1:169560616 T / C
gnomAD v4:
chr1-169560616-T-C
Joint Max Group AF 0.00144875 (EAS)
Genomes Max Group AF 0.00370582 (EAS)
Exomes Max Group AF 0.00102526 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169560616T>C , CM000663.2:g.169560616T>C GRCh38
NC_000001.10:g.169529854T>C , CM000663.1:g.169529854T>C GRCh37
NC_000001.9:g.167796478T>C NCBI36
NG_011806.1:g.30916A>G , LRG_553:g.30916A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.524A>G MANE Select ENSP00000356771.3:p.His175Arg
ENST00000367796.3:c.524A>G ENSP00000356770.3:p.His175Arg
ENST00000367797.7:c.524A>G ENSP00000356771.3:p.His175Arg
NM_000130.4:c.524A>G , LRG_553t1:c.524A>G NP_000121.2:p.His175Arg
XM_017000660.2:c.113A>G XP_016856149.1:p.His38Arg
NM_000130.5:c.524A>G MANE Select NP_000121.2:p.His175Arg
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