Canonical Allele Identifier: CA1233629
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169536642T>A
GRCh37 chr1:g.169505880T>A
Revel Score:
ENST00000367797 (MANE Select) 0.262
ENST00000367796 0.262
gnomAD v2:
1:169505880 T / A
gnomAD v3:
1:169536642 T / A
gnomAD v4:
chr1-169536642-T-A
Joint Max Group AF 0.00118276 (AFR)
Genomes Max Group AF 0.00095763 (AFR)
Exomes Max Group AF 0.00127088 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169536642T>A , CM000663.2:g.169536642T>A GRCh38
NC_000001.10:g.169505880T>A , CM000663.1:g.169505880T>A GRCh37
NC_000001.9:g.167772504T>A NCBI36
NG_011806.1:g.54890A>T , LRG_553:g.54890A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4835A>T MANE Select ENSP00000356771.3:p.Asp1612Val
ENST00000367796.3:c.4850A>T ENSP00000356770.3:p.Asp1617Val
ENST00000367797.7:c.4835A>T ENSP00000356771.3:p.Asp1612Val
NM_000130.4:c.4835A>T , LRG_553t1:c.4835A>T NP_000121.2:p.Asp1612Val
XM_017000660.2:c.4424A>T XP_016856149.1:p.Asp1475Val
NM_000130.5:c.4835A>T MANE Select NP_000121.2:p.Asp1612Val
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