Canonical Allele Identifier: CA2979091
Gene: FRAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349811
dbSNP Id: rs778772211
gnomAD v2: 4-79447755-G-A
gnomAD v3: 4-78526601-G-A
gnomAD v4: 4-78526601-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78526601G>A , CM000666.2:g.78526601G>A GRCh38
NC_000004.11:g.79447755G>A , CM000666.1:g.79447755G>A GRCh37
NC_000004.10:g.79666779G>A NCBI36
NG_015812.1:g.474032G>A
NG_015812.2:g.474032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000512123.4:c.10869G>A MANE Select ENSP00000422834.2:p.Gln3623=
ENST00000512123.3:c.10869G>A ENSP00000422834.2:p.Gln3623=
NM_025074.6:c.10869G>A NP_079350.5:p.Gln3623=
XM_006714314.1:c.10863G>A XP_006714377.1:p.Gln3621=
XM_006714316.1:c.10641G>A XP_006714379.1:p.Gln3547=
XM_011532270.1:c.8568G>A XP_011530572.1:p.Gln2856=
XM_011532271.1:c.5757G>A XP_011530573.1:p.Gln1919=
XM_006714316.3:c.10641G>A XP_006714379.1:p.Gln3547=
NM_025074.7:c.10869G>A MANE Select NP_079350.5:p.Gln3623=