Canonical Allele Identifier: CA251546
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169555299C>G
GRCh37 chr1:g.169524537C>G
Revel Score:
ENST00000367797 (MANE Select) 0.664
ENST00000367796 0.664
ENST00000546081 0.664
gnomAD v2:
1:169524537 C / G
gnomAD v3:
1:169555299 C / G
gnomAD v4:
chr1-169555299-C-G
Joint Max Group AF 0.00101744 (MID)
Genomes Max Group AF 0.00008869 (AMR)
Exomes Max Group AF 0.00106898 (MID)
ClinVar RCV:
RCV000000678
ClinVar Variation:
644
dbSNP:
118203906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555299C>G , CM000663.2:g.169555299C>G GRCh38
NC_000001.10:g.169524537C>G , CM000663.1:g.169524537C>G GRCh37
NC_000001.9:g.167791161C>G NCBI36
NG_011806.1:g.36233G>C , LRG_553:g.36233G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1001G>C MANE Select ENSP00000356771.3:p.Arg334Thr
ENST00000367796.3:c.1001G>C ENSP00000356770.3:p.Arg334Thr
ENST00000367797.7:c.1001G>C ENSP00000356771.3:p.Arg334Thr
NM_000130.4:c.1001G>C , LRG_553t1:c.1001G>C NP_000121.2:p.Arg334Thr
XM_017000660.2:c.590G>C XP_016856149.1:p.Arg197Thr
NM_000130.5:c.1001G>C MANE Select NP_000121.2:p.Arg334Thr
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