Canonical Allele Identifier: CA1234357
Gene: F5 HGNC NCBI
COSMIC:
COSM40960
MyVariant.info:
GRCh38 chr1:g.169550736C>T
GRCh37 chr1:g.169519974C>T
Revel Score:
ENST00000367797 (MANE Select) 0.608
ENST00000367796 0.608
ENST00000546081 0.608
gnomAD v2:
1:169519974 C / T
gnomAD v3:
1:169550736 C / T
gnomAD v4:
chr1-169550736-C-T
Joint Max Group AF 0.0000583 (MID)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00006105 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169550736C>T , CM000663.2:g.169550736C>T GRCh38
NC_000001.10:g.169519974C>T , CM000663.1:g.169519974C>T GRCh37
NC_000001.9:g.167786598C>T NCBI36
NG_011806.1:g.40796G>A , LRG_553:g.40796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1300G>A MANE Select ENSP00000356771.3:p.Val434Met
ENST00000367796.3:c.1300G>A ENSP00000356770.3:p.Val434Met
ENST00000367797.7:c.1300G>A ENSP00000356771.3:p.Val434Met
NM_000130.4:c.1300G>A , LRG_553t1:c.1300G>A NP_000121.2:p.Val434Met
XM_017000660.2:c.889G>A XP_016856149.1:p.Val297Met
NM_000130.5:c.1300G>A MANE Select NP_000121.2:p.Val434Met
Search 100 bp 5'
Search 100 bp 3'