Canonical Allele Identifier: CA343121150
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169542689G>T
GRCh37 chr1:g.169511927G>T
Revel Score:
ENST00000367797 (MANE Select) 0.021
ENST00000367796 0.021
gnomAD v2:
1:169511927 G / T
gnomAD v3:
1:169542689 G / T
gnomAD v4:
chr1-169542689-G-T
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542689G>T , CM000663.2:g.169542689G>T GRCh38
NC_000001.10:g.169511927G>T , CM000663.1:g.169511927G>T GRCh37
NC_000001.9:g.167778551G>T NCBI36
NG_011806.1:g.48843C>A , LRG_553:g.48843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.2401C>A MANE Select ENSP00000356771.3:p.Gln801Lys
ENST00000367796.3:c.2416C>A ENSP00000356770.3:p.Gln806Lys
ENST00000367797.7:c.2401C>A ENSP00000356771.3:p.Gln801Lys
NM_000130.4:c.2401C>A , LRG_553t1:c.2401C>A NP_000121.2:p.Gln801Lys
XM_017000660.2:c.1990C>A XP_016856149.1:p.Gln664Lys
NM_000130.5:c.2401C>A MANE Select NP_000121.2:p.Gln801Lys
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