Canonical Allele Identifier: CA1233479
Gene: F5 HGNC NCBI
COSMIC:
COSM249585
MyVariant.info:
GRCh38 chr1:g.169527956C>A
GRCh37 chr1:g.169497194C>A
Revel Score:
ENST00000367797 (MANE Select) 0.382
ENST00000367796 0.382
gnomAD v2:
1:169497194 C / A
gnomAD v3:
1:169527956 C / A
gnomAD v4:
chr1-169527956-C-A
Joint Max Group AF 0.01102337 (EAS)
Genomes Max Group AF 0.01252265 (EAS)
Exomes Max Group AF 0.0105478 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169527956C>A , CM000663.2:g.169527956C>A GRCh38
NC_000001.10:g.169497194C>A , CM000663.1:g.169497194C>A GRCh37
NC_000001.9:g.167763818C>A NCBI36
NG_011806.1:g.63576G>T , LRG_553:g.63576G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.5558G>T MANE Select ENSP00000356771.3:p.Gly1853Val
ENST00000367796.3:c.5573G>T ENSP00000356770.3:p.Gly1858Val
ENST00000367797.7:c.5558G>T ENSP00000356771.3:p.Gly1853Val
NM_000130.4:c.5558G>T , LRG_553t1:c.5558G>T NP_000121.2:p.Gly1853Val
XM_017000660.2:c.5147G>T XP_016856149.1:p.Gly1716Val
NM_000130.5:c.5558G>T MANE Select NP_000121.2:p.Gly1853Val
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