Canonical Allele Identifier: CA251556
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169541609G>A
GRCh37 chr1:g.169510847G>A
gnomAD v2:
1:169510847 G / A
gnomAD v3:
1:169541609 G / A
gnomAD v4:
chr1-169541609-G-A
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000000685
ClinVar Variation:
651
dbSNP:
118203909
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541609G>A , CM000663.2:g.169541609G>A GRCh38
NC_000001.10:g.169510847G>A , CM000663.1:g.169510847G>A GRCh37
NC_000001.9:g.167777471G>A NCBI36
NG_011806.1:g.49923C>T , LRG_553:g.49923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3481C>T MANE Select ENSP00000356771.3:p.Arg1161Ter
ENST00000367796.3:c.3496C>T ENSP00000356770.3:p.Arg1166Ter
ENST00000367797.7:c.3481C>T ENSP00000356771.3:p.Arg1161Ter
NM_000130.4:c.3481C>T , LRG_553t1:c.3481C>T NP_000121.2:p.Arg1161Ter
XM_017000660.2:c.3070C>T XP_016856149.1:p.Arg1024Ter
NM_000130.5:c.3481C>T MANE Select NP_000121.2:p.Arg1161Ter
Search 100 bp 5'
Search 100 bp 3'