Canonical Allele Identifier: CA1234737
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169586276A>T
GRCh37 chr1:g.169555514A>T
gnomAD v2:
1:169555514 A / T
gnomAD v3:
1:169586276 A / T
gnomAD v4:
chr1-169586276-A-T
Joint Max Group AF 0.00033107 (SAS)
Genomes Max Group AF 0.00028329 (SAS)
Exomes Max Group AF 0.00030964 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169586276A>T , CM000663.2:g.169586276A>T GRCh38
NC_000001.10:g.169555514A>T , CM000663.1:g.169555514A>T GRCh37
NC_000001.9:g.167822138A>T NCBI36
NG_011806.1:g.5256T>A , LRG_553:g.5256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.111T>A MANE Select ENSP00000356771.3:p.Ala37=
ENST00000367796.3:c.111T>A ENSP00000356770.3:p.Ala37=
ENST00000367797.7:c.111T>A ENSP00000356771.3:p.Ala37=
NM_000130.4:c.111T>A , LRG_553t1:c.111T>A NP_000121.2:p.Ala37=
XM_017000660.2:c.-209T>A XP_016856149.1:n.-209T>A
NM_000130.5:c.111T>A MANE Select NP_000121.2:p.Ala37=
Search 100 bp 5'
Search 100 bp 3'