Canonical Allele Identifier: CA1234227
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169544486C>T
GRCh37 chr1:g.169513724C>T
gnomAD v2:
1:169513724 C / T
gnomAD v3:
1:169544486 C / T
gnomAD v4:
chr1-169544486-C-T
Joint Max Group AF 0.00217424 (AFR)
Genomes Max Group AF 0.0019127 (AFR)
Exomes Max Group AF 0.00223973 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169544486C>T , CM000663.2:g.169544486C>T GRCh38
NC_000001.10:g.169513724C>T , CM000663.1:g.169513724C>T GRCh37
NC_000001.9:g.167780348C>T NCBI36
NG_011806.1:g.47046G>A , LRG_553:g.47046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1785G>A MANE Select ENSP00000356771.3:p.Glu595=
ENST00000367796.3:c.1800G>A ENSP00000356770.3:p.Glu600=
ENST00000367797.7:c.1785G>A ENSP00000356771.3:p.Glu595=
NM_000130.4:c.1785G>A , LRG_553t1:c.1785G>A NP_000121.2:p.Glu595=
XM_017000660.2:c.1374G>A XP_016856149.1:p.Glu458=
NM_000130.5:c.1785G>A MANE Select NP_000121.2:p.Glu595=
Search 100 bp 5'
Search 100 bp 3'