Canonical Allele Identifier: CA2976778
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78372804G>A
GRCh37 chr4:g.79293958G>A
Revel Score:
ENST00000325942 0.126
ENST00000264895 0.126
gnomAD v2:
4:79293958 G / A
gnomAD v3:
4:78372804 G / A
gnomAD v4:
chr4-78372804-G-A
Joint Max Group AF 0.00306911 (AFR)
Genomes Max Group AF 0.00246707 (AFR)
Exomes Max Group AF 0.00350875 (AFR)
ClinVar RCV:
RCV000514473
RCV001151503
ClinVar Variation:
445365
dbSNP:
111554790
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78372804G>A , CM000666.2:g.78372804G>A GRCh38
NC_000004.11:g.79293958G>A , CM000666.1:g.79293958G>A GRCh37
NC_000004.10:g.79512982G>A NCBI36
NG_015812.1:g.320235G>A
NG_015812.2:g.320235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.2956G>A ENSP00000326330.6:p.Ala986Thr
ENST00000682513.1:c.2956G>A ENSP00000508201.1:p.Ala986Thr
ENST00000684159.1:c.2956G>A ENSP00000506875.1:p.Ala986Thr
ENST00000512123.4:c.2956G>A MANE Select ENSP00000422834.2:p.Ala986Thr
ENST00000264899.10:c.845-71299G>A ENSP00000264899.7:n.845-71299G>A
ENST00000325942.10:c.2956G>A ENSP00000326330.6:p.Ala986Thr
ENST00000512123.3:c.2956G>A ENSP00000422834.2:p.Ala986Thr
NM_001166133.1:c.2956G>A NP_001159605.1:p.Ala986Thr
NM_025074.6:c.2956G>A NP_079350.5:p.Ala986Thr
XM_006714314.1:c.2956G>A XP_006714377.1:p.Ala986Thr
XM_006714316.1:c.2956G>A XP_006714379.1:p.Ala986Thr
XM_011532270.1:c.655G>A XP_011530572.1:p.Ala219Thr
XM_006714316.3:c.2956G>A XP_006714379.1:p.Ala986Thr
NM_025074.7:c.2956G>A MANE Select NP_079350.5:p.Ala986Thr
NM_001166133.2:c.2956G>A NP_001159605.1:p.Ala986Thr
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