Canonical Allele Identifier: CA251559
Gene: F5 HGNC NCBI
COSMIC:
COSM207756
MyVariant.info:
GRCh38 chr1:g.169518453G>A
GRCh37 chr1:g.169487691G>A
Revel Score:
ENST00000367797 (MANE Select) 0.948
ENST00000367796 0.948
gnomAD v2:
1:169487691 G / A
gnomAD v4:
chr1-169518453-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV000000688
ClinVar Variation:
654
dbSNP:
118203910
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169518453G>A , CM000663.2:g.169518453G>A GRCh38
NC_000001.10:g.169487691G>A , CM000663.1:g.169487691G>A GRCh37
NC_000001.9:g.167754315G>A NCBI36
NG_011806.1:g.73079C>T , LRG_553:g.73079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.6304C>T MANE Select ENSP00000356771.3:p.Arg2102Cys
ENST00000367796.3:c.6319C>T ENSP00000356770.3:p.Arg2107Cys
ENST00000367797.7:c.6304C>T ENSP00000356771.3:p.Arg2102Cys
NM_000130.4:c.6304C>T , LRG_553t1:c.6304C>T NP_000121.2:p.Arg2102Cys
XM_017000660.2:c.5893C>T XP_016856149.1:p.Arg1965Cys
NM_000130.5:c.6304C>T MANE Select NP_000121.2:p.Arg2102Cys
Search 100 bp 5'
Search 100 bp 3'