Canonical Allele Identifier: CA2977978
Gene: FRAS1 HGNC NCBI
COSMIC:
COSM5763259 (not active)
COSM5763260 (not active)
MyVariant.info:
GRCh38 chr4:g.78466211G>A
GRCh37 chr4:g.79387365G>A
Revel Score:
ENST00000264895 0.209
ENST00000512123 (MANE Select) 0.136
gnomAD v2:
4:79387365 G / A
gnomAD v3:
4:78466211 G / A
gnomAD v4:
chr4-78466211-G-A
Joint Max Group AF 0.00780526 (AFR)
Genomes Max Group AF 0.00708026 (AFR)
Exomes Max Group AF 0.00821296 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78466211G>A , CM000666.2:g.78466211G>A GRCh38
NC_000004.11:g.79387365G>A , CM000666.1:g.79387365G>A GRCh37
NC_000004.10:g.79606389G>A NCBI36
NG_015812.1:g.413642G>A
NG_015812.2:g.413642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.7033G>A ENSP00000508201.1:p.Glu2345Lys
ENST00000512123.4:c.7033G>A MANE Select ENSP00000422834.2:p.Glu2345Lys
ENST00000512123.3:c.7033G>A ENSP00000422834.2:p.Glu2345Lys
NM_025074.6:c.7033G>A NP_079350.5:p.Glu2345Lys
XM_006714314.1:c.7027G>A XP_006714377.1:p.Glu2343Lys
XM_006714316.1:c.7029+1628G>A XP_006714379.1:n.7029+1628G>A
XM_011532270.1:c.4732G>A XP_011530572.1:p.Glu1578Lys
XM_011532271.1:c.1921G>A XP_011530573.1:p.Glu641Lys
XM_006714316.3:c.7029+1628G>A XP_006714379.1:n.7029+1628G>A
NM_025074.7:c.7033G>A MANE Select NP_079350.5:p.Glu2345Lys
Search 100 bp 5'
Search 100 bp 3'