Canonical Allele Identifier: CA2978626
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78499896G>A
GRCh37 chr4:g.79421050G>A
Revel Score:
ENST00000512123 (MANE Select) 0.223
gnomAD v2:
4:79421050 G / A
gnomAD v3:
4:78499896 G / A
gnomAD v4:
chr4-78499896-G-A
Joint Max Group AF 0.01035811 (MID)
Genomes Max Group AF 0.00040833 (SAS)
Exomes Max Group AF 0.01089953 (MID)
ClinVar Allele:
294322
ClinVar RCV:
RCV000376218
RCV000865063
RCV003932434
ClinVar Variation:
349783
dbSNP:
376458338
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78499896G>A , CM000666.2:g.78499896G>A GRCh38
NC_000004.11:g.79421050G>A , CM000666.1:g.79421050G>A GRCh37
NC_000004.10:g.79640074G>A NCBI36
NG_015812.1:g.447327G>A
NG_015812.2:g.447327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.9291G>A ENSP00000508201.1:p.Lys3097=
ENST00000512123.4:c.9291G>A MANE Select ENSP00000422834.2:p.Lys3097=
ENST00000512123.3:c.9291G>A ENSP00000422834.2:p.Lys3097=
NM_025074.6:c.9291G>A NP_079350.5:p.Lys3097=
XM_006714314.1:c.9285G>A XP_006714377.1:p.Lys3095=
XM_006714316.1:c.9063G>A XP_006714379.1:p.Lys3021=
XM_011532270.1:c.6990G>A XP_011530572.1:p.Lys2330=
XM_011532271.1:c.4179G>A XP_011530573.1:p.Lys1393=
XM_006714316.3:c.9063G>A XP_006714379.1:p.Lys3021=
NM_025074.7:c.9291G>A MANE Select NP_079350.5:p.Lys3097=
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