Canonical Allele Identifier: CA2977853
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78452275G>A
GRCh37 chr4:g.79373429G>A
Revel Score:
ENST00000512123 (MANE Select) 0.218
gnomAD v2:
4:79373429 G / A
gnomAD v4:
chr4-78452275-G-A
Joint Max Group AF 0.00008835 (EAS)
Exomes Max Group AF 0.00009929 (EAS)
ClinVar Allele:
299512
ClinVar RCV:
RCV000369746
RCV003669139
ClinVar Variation:
349739
dbSNP:
759150629
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78452275G>A , CM000666.2:g.78452275G>A GRCh38
NC_000004.11:g.79373429G>A , CM000666.1:g.79373429G>A GRCh37
NC_000004.10:g.79592453G>A NCBI36
NG_015812.1:g.399706G>A
NG_015812.2:g.399706G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.6684G>A ENSP00000508201.1:p.Gln2228=
ENST00000512123.4:c.6684G>A MANE Select ENSP00000422834.2:p.Gln2228=
ENST00000512123.3:c.6684G>A ENSP00000422834.2:p.Gln2228=
NM_025074.6:c.6684G>A NP_079350.5:p.Gln2228=
XM_006714314.1:c.6678G>A XP_006714377.1:p.Gln2226=
XM_006714316.1:c.6684G>A XP_006714379.1:p.Gln2228=
XM_011532270.1:c.4383G>A XP_011530572.1:p.Gln1461=
XM_011532271.1:c.1572G>A XP_011530573.1:p.Gln524=
XM_006714316.3:c.6684G>A XP_006714379.1:p.Gln2228=
NM_025074.7:c.6684G>A MANE Select NP_079350.5:p.Gln2228=
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