Canonical Allele Identifier: CA1233789
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169541141C>T
GRCh37 chr1:g.169510379C>T
Revel Score:
ENST00000367797 (MANE Select) 0.012
ENST00000367796 0.012
gnomAD v2:
1:169510379 C / T
gnomAD v3:
1:169541141 C / T
gnomAD v4:
chr1-169541141-C-T
Joint Max Group AF 0.00015617 (AFR)
Genomes Max Group AF 0.00014855 (AFR)
Exomes Max Group AF 0.00009984 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541141C>T , CM000663.2:g.169541141C>T GRCh38
NC_000001.10:g.169510379C>T , CM000663.1:g.169510379C>T GRCh37
NC_000001.9:g.167777003C>T NCBI36
NG_011806.1:g.50391G>A , LRG_553:g.50391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3949G>A MANE Select ENSP00000356771.3:p.Gly1317Ser
ENST00000367796.3:c.3964G>A ENSP00000356770.3:p.Gly1322Ser
ENST00000367797.7:c.3949G>A ENSP00000356771.3:p.Gly1317Ser
NM_000130.4:c.3949G>A , LRG_553t1:c.3949G>A NP_000121.2:p.Gly1317Ser
XM_017000660.2:c.3538G>A XP_016856149.1:p.Gly1180Ser
NM_000130.5:c.3949G>A MANE Select NP_000121.2:p.Gly1317Ser
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