Canonical Allele Identifier: CA1233716
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169540757T>C
GRCh37 chr1:g.169509995T>C
Revel Score:
ENST00000367797 (MANE Select) 0.014
ENST00000367796 0.014
gnomAD v2:
1:169509995 T / C
gnomAD v3:
1:169540757 T / C
gnomAD v4:
chr1-169540757-T-C
Joint Max Group AF 0.00035953 (AMR)
Genomes Max Group AF 0.00026066 (AMR)
Exomes Max Group AF 0.0003327 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169540757T>C , CM000663.2:g.169540757T>C GRCh38
NC_000001.10:g.169509995T>C , CM000663.1:g.169509995T>C GRCh37
NC_000001.9:g.167776619T>C NCBI36
NG_011806.1:g.50775A>G , LRG_553:g.50775A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4333A>G MANE Select ENSP00000356771.3:p.Thr1445Ala
ENST00000367796.3:c.4348A>G ENSP00000356770.3:p.Thr1450Ala
ENST00000367797.7:c.4333A>G ENSP00000356771.3:p.Thr1445Ala
NM_000130.4:c.4333A>G , LRG_553t1:c.4333A>G NP_000121.2:p.Thr1445Ala
XM_017000660.2:c.3922A>G XP_016856149.1:p.Thr1308Ala
NM_000130.5:c.4333A>G MANE Select NP_000121.2:p.Thr1445Ala
Search 100 bp 5'
Search 100 bp 3'