Canonical Allele Identifier: CA2979274
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78540766C>T
GRCh37 chr4:g.79461920C>T
Revel Score:
ENST00000264895 0.019
gnomAD v2:
4:79461920 C / T
gnomAD v3:
4:78540766 C / T
gnomAD v4:
chr4-78540766-C-T
Joint Max Group AF 0.00034065 (SAS)
Genomes Max Group AF 0.00006811 (EAS)
Exomes Max Group AF 0.00034964 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78540766C>T , CM000666.2:g.78540766C>T GRCh38
NC_000004.11:g.79461920C>T , CM000666.1:g.79461920C>T GRCh37
NC_000004.10:g.79680944C>T NCBI36
NG_015812.1:g.488197C>T
NG_015812.2:g.488197C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512123.4:c.11681C>T MANE Select ENSP00000422834.2:p.Ala3894Val
ENST00000512123.3:c.11681C>T ENSP00000422834.2:p.Ala3894Val
NM_025074.6:c.11681C>T NP_079350.5:p.Ala3894Val
XM_006714314.1:c.11675C>T XP_006714377.1:p.Ala3892Val
XM_006714316.1:c.11453C>T XP_006714379.1:p.Ala3818Val
XM_011532270.1:c.9380C>T XP_011530572.1:p.Ala3127Val
XM_011532271.1:c.6569C>T XP_011530573.1:p.Ala2190Val
XM_006714316.3:c.11453C>T XP_006714379.1:p.Ala3818Val
NM_025074.7:c.11681C>T MANE Select NP_079350.5:p.Ala3894Val
Search 100 bp 5'
Search 100 bp 3'