Canonical Allele Identifier: CA2977247
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78421879G>A
GRCh37 chr4:g.79343033G>A
gnomAD v2:
4:79343033 G / A
gnomAD v3:
4:78421879 G / A
gnomAD v4:
chr4-78421879-G-A
Joint Max Group AF 0.00000429 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar Allele:
299502
ClinVar RCV:
RCV000333996
RCV000930389
ClinVar Variation:
349713
dbSNP:
773736914
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78421879G>A , CM000666.2:g.78421879G>A GRCh38
NC_000004.11:g.79343033G>A , CM000666.1:g.79343033G>A GRCh37
NC_000004.10:g.79562057G>A NCBI36
NG_015812.1:g.369310G>A
NG_015812.2:g.369310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.4557G>A ENSP00000326330.6:p.Arg1519=
ENST00000682513.1:c.4557G>A ENSP00000508201.1:p.Arg1519=
ENST00000684159.1:c.4557G>A ENSP00000506875.1:p.Arg1519=
ENST00000512123.4:c.4557G>A MANE Select ENSP00000422834.2:p.Arg1519=
ENST00000264899.10:c.845-22224G>A ENSP00000264899.7:n.845-22224G>A
ENST00000325942.10:c.4557G>A ENSP00000326330.6:p.Arg1519=
ENST00000510944.3:c.27-2509G>A
ENST00000512123.3:c.4557G>A ENSP00000422834.2:p.Arg1519=
NM_001166133.1:c.4557G>A NP_001159605.1:p.Arg1519=
NM_025074.6:c.4557G>A NP_079350.5:p.Arg1519=
XM_006714314.1:c.4557G>A XP_006714377.1:p.Arg1519=
XM_006714316.1:c.4557G>A XP_006714379.1:p.Arg1519=
XM_011532270.1:c.2256G>A XP_011530572.1:p.Arg752=
XM_006714316.3:c.4557G>A XP_006714379.1:p.Arg1519=
NM_025074.7:c.4557G>A MANE Select NP_079350.5:p.Arg1519=
NM_001166133.2:c.4557G>A NP_001159605.1:p.Arg1519=
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