Canonical Allele Identifier: CA2978147
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78473466T>A
GRCh37 chr4:g.79394620T>A
Revel Score:
ENST00000512123 (MANE Select) 0.348
gnomAD v2:
4:79394620 T / A
gnomAD v3:
4:78473466 T / A
gnomAD v4:
chr4-78473466-T-A
Joint Max Group AF 0.00003342 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003374 (NFE)
ClinVar Allele:
237166
ClinVar RCV:
RCV000223984
RCV000778741
RCV001328302
ClinVar Variation:
235484
dbSNP:
745597204
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78473466T>A , CM000666.2:g.78473466T>A GRCh38
NC_000004.11:g.79394620T>A , CM000666.1:g.79394620T>A GRCh37
NC_000004.10:g.79613644T>A NCBI36
NG_015812.1:g.420897T>A
NG_015812.2:g.420897T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.7551T>A ENSP00000508201.1:p.Tyr2517Ter
ENST00000512123.4:c.7551T>A MANE Select ENSP00000422834.2:p.Tyr2517Ter
ENST00000512123.3:c.7551T>A ENSP00000422834.2:p.Tyr2517Ter
NM_025074.6:c.7551T>A NP_079350.5:p.Tyr2517Ter
XM_006714314.1:c.7545T>A XP_006714377.1:p.Tyr2515Ter
XM_006714316.1:c.7323T>A XP_006714379.1:p.Tyr2441Ter
XM_011532270.1:c.5250T>A XP_011530572.1:p.Tyr1750Ter
XM_011532271.1:c.2439T>A XP_011530573.1:p.Tyr813Ter
XM_006714316.3:c.7323T>A XP_006714379.1:p.Tyr2441Ter
NM_025074.7:c.7551T>A MANE Select NP_079350.5:p.Tyr2517Ter
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