Canonical Allele Identifier: CA1233810
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169541239G>A
GRCh37 chr1:g.169510477G>A
Revel Score:
ENST00000367797 (MANE Select) 0.046
ENST00000367796 0.046
gnomAD v2:
1:169510477 G / A
gnomAD v3:
1:169541239 G / A
gnomAD v4:
chr1-169541239-G-A
Joint Max Group AF 0.00425218 (AFR)
Genomes Max Group AF 0.00400786 (AFR)
Exomes Max Group AF 0.00419212 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541239G>A , CM000663.2:g.169541239G>A GRCh38
NC_000001.10:g.169510477G>A , CM000663.1:g.169510477G>A GRCh37
NC_000001.9:g.167777101G>A NCBI36
NG_011806.1:g.50293C>T , LRG_553:g.50293C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3851C>T MANE Select ENSP00000356771.3:p.Thr1284Ile
ENST00000367796.3:c.3866C>T ENSP00000356770.3:p.Thr1289Ile
ENST00000367797.7:c.3851C>T ENSP00000356771.3:p.Thr1284Ile
NM_000130.4:c.3851C>T , LRG_553t1:c.3851C>T NP_000121.2:p.Thr1284Ile
XM_017000660.2:c.3440C>T XP_016856149.1:p.Thr1147Ile
NM_000130.5:c.3851C>T MANE Select NP_000121.2:p.Thr1284Ile
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