Canonical Allele Identifier: CA2977936
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78464486C>T
GRCh37 chr4:g.79385640C>T
Revel Score:
ENST00000264895 0.173
gnomAD v2:
4:79385640 C / T
gnomAD v3:
4:78464486 C / T
gnomAD v4:
chr4-78464486-C-T
Joint Max Group AF 0.0004475 (NFE)
Genomes Max Group AF 0.00026695 (NFE)
Exomes Max Group AF 0.0004524 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78464486C>T , CM000666.2:g.78464486C>T GRCh38
NC_000004.11:g.79385640C>T , CM000666.1:g.79385640C>T GRCh37
NC_000004.10:g.79604664C>T NCBI36
NG_015812.1:g.411917C>T
NG_015812.2:g.411917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.6932C>T ENSP00000508201.1:p.Ser2311Leu
ENST00000512123.4:c.6932C>T MANE Select ENSP00000422834.2:p.Ser2311Leu
ENST00000512123.3:c.6932C>T ENSP00000422834.2:p.Ser2311Leu
NM_025074.6:c.6932C>T NP_079350.5:p.Ser2311Leu
XM_006714314.1:c.6926C>T XP_006714377.1:p.Ser2309Leu
XM_006714316.1:c.6932C>T XP_006714379.1:p.Ser2311Leu
XM_011532270.1:c.4631C>T XP_011530572.1:p.Ser1544Leu
XM_011532271.1:c.1820C>T XP_011530573.1:p.Ser607Leu
XM_006714316.3:c.6932C>T XP_006714379.1:p.Ser2311Leu
NM_025074.7:c.6932C>T MANE Select NP_079350.5:p.Ser2311Leu
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