Canonical Allele Identifier: CA245447
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78245253T>C
GRCh37 chr4:g.79166407T>C
Revel Score:
ENST00000502446 0.034
gnomAD v2:
4:79166407 T / C
gnomAD v3:
4:78245253 T / C
gnomAD v4:
chr4-78245253-T-C
Joint Max Group AF 0.00025085 (NFE)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00025803 (NFE)
ClinVar Allele:
194516
ClinVar RCV:
RCV000178368
RCV000259756
ClinVar Variation:
197355
dbSNP:
370345916
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78245253T>C , CM000666.2:g.78245253T>C GRCh38
NC_000004.11:g.79166407T>C , CM000666.1:g.79166407T>C GRCh37
NC_000004.10:g.79385431T>C NCBI36
NG_015812.1:g.192684T>C
NG_015812.2:g.192684T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.237T>C ENSP00000326330.6:p.Ala79=
ENST00000502446.6:c.237T>C ENSP00000423645.2:p.Ala79=
ENST00000508900.2:c.237T>C ENSP00000423809.2:p.Ala79=
ENST00000682513.1:c.237T>C ENSP00000508201.1:p.Ala79=
ENST00000683711.1:n.557T>C
ENST00000684159.1:c.237T>C ENSP00000506875.1:p.Ala79=
ENST00000512123.4:c.237T>C MANE Select ENSP00000422834.2:p.Ala79=
ENST00000264899.10:c.237T>C ENSP00000264899.7:p.Ala79=
ENST00000325942.10:c.237T>C ENSP00000326330.6:p.Ala79=
ENST00000502446.5:c.23T>C
ENST00000512123.3:c.237T>C ENSP00000422834.2:p.Ala79=
NM_001166133.1:c.237T>C NP_001159605.1:p.Ala79=
NM_025074.6:c.237T>C NP_079350.5:p.Ala79=
XM_006714314.1:c.237T>C XP_006714377.1:p.Ala79=
XM_006714316.1:c.237T>C XP_006714379.1:p.Ala79=
XM_006714316.3:c.237T>C XP_006714379.1:p.Ala79=
NM_025074.7:c.237T>C MANE Select NP_079350.5:p.Ala79=
NM_001166133.2:c.237T>C NP_001159605.1:p.Ala79=
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