Canonical Allele Identifier: CA2978191
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78475477G>A
GRCh37 chr4:g.79396631G>A
Revel Score:
ENST00000512123 (MANE Select) 0.077
gnomAD v2:
4:79396631 G / A
gnomAD v3:
4:78475477 G / A
gnomAD v4:
chr4-78475477-G-A
Joint Max Group AF 0.00015402 (EAS)
Genomes Max Group AF 0.00026344 (EAS)
Exomes Max Group AF 0.0000993 (EAS)
ClinVar Allele:
299560
ClinVar RCV:
RCV000365383
RCV000916600
ClinVar Variation:
349759
dbSNP:
569422992
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78475477G>A , CM000666.2:g.78475477G>A GRCh38
NC_000004.11:g.79396631G>A , CM000666.1:g.79396631G>A GRCh37
NC_000004.10:g.79615655G>A NCBI36
NG_015812.1:g.422908G>A
NG_015812.2:g.422908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.7722G>A ENSP00000508201.1:p.Thr2574=
ENST00000512123.4:c.7722G>A MANE Select ENSP00000422834.2:p.Thr2574=
ENST00000512123.3:c.7722G>A ENSP00000422834.2:p.Thr2574=
NM_025074.6:c.7722G>A NP_079350.5:p.Thr2574=
XM_006714314.1:c.7716G>A XP_006714377.1:p.Thr2572=
XM_006714316.1:c.7494G>A XP_006714379.1:p.Thr2498=
XM_011532270.1:c.5421G>A XP_011530572.1:p.Thr1807=
XM_011532271.1:c.2610G>A XP_011530573.1:p.Thr870=
XM_006714316.3:c.7494G>A XP_006714379.1:p.Thr2498=
NM_025074.7:c.7722G>A MANE Select NP_079350.5:p.Thr2574=
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