Canonical Allele Identifier: CA1233952
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169541879G>A
GRCh37 chr1:g.169511117G>A
Revel Score:
ENST00000367797 (MANE Select) 0.062
ENST00000367796 0.062
gnomAD v2:
1:169511117 G / A
gnomAD v3:
1:169541879 G / A
gnomAD v4:
chr1-169541879-G-A
Joint Max Group AF 0.00165031 (AFR)
Genomes Max Group AF 0.00169265 (AFR)
Exomes Max Group AF 0.00137565 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541879G>A , CM000663.2:g.169541879G>A GRCh38
NC_000001.10:g.169511117G>A , CM000663.1:g.169511117G>A GRCh37
NC_000001.9:g.167777741G>A NCBI36
NG_011806.1:g.49653C>T , LRG_553:g.49653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3211C>T MANE Select ENSP00000356771.3:p.His1071Tyr
ENST00000367796.3:c.3226C>T ENSP00000356770.3:p.His1076Tyr
ENST00000367797.7:c.3211C>T ENSP00000356771.3:p.His1071Tyr
NM_000130.4:c.3211C>T , LRG_553t1:c.3211C>T NP_000121.2:p.His1071Tyr
XM_017000660.2:c.2800C>T XP_016856149.1:p.His934Tyr
NM_000130.5:c.3211C>T MANE Select NP_000121.2:p.His1071Tyr
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