Canonical Allele Identifier: CA2978447
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78482381C>T
GRCh37 chr4:g.79403535C>T
gnomAD v2:
4:79403535 C / T
gnomAD v3:
4:78482381 C / T
gnomAD v4:
chr4-78482381-C-T
Joint Max Group AF 0.0000826 (NFE)
Genomes Max Group AF 0.00005844 (NFE)
Exomes Max Group AF 0.00008126 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78482381C>T , CM000666.2:g.78482381C>T GRCh38
NC_000004.11:g.79403535C>T , CM000666.1:g.79403535C>T GRCh37
NC_000004.10:g.79622559C>T NCBI36
NG_015812.1:g.429812C>T
NG_015812.2:g.429812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.8605-7C>T ENSP00000508201.1:n.8605-7C>T
ENST00000512123.4:c.8605-7C>T MANE Select ENSP00000422834.2:n.8605-7C>T
ENST00000512123.3:c.8605-7C>T ENSP00000422834.2:n.8605-7C>T
NM_025074.6:c.8605-7C>T NP_079350.5:n.8605-7C>T
XM_006714314.1:c.8599-7C>T XP_006714377.1:n.8599-7C>T
XM_006714316.1:c.8377-7C>T XP_006714379.1:n.8377-7C>T
XM_011532270.1:c.6304-7C>T XP_011530572.1:n.6304-7C>T
XM_011532271.1:c.3493-7C>T XP_011530573.1:n.3493-7C>T
XM_006714316.3:c.8377-7C>T XP_006714379.1:n.8377-7C>T
NM_025074.7:c.8605-7C>T MANE Select NP_079350.5:n.8605-7C>T
Search 100 bp 5'
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