Canonical Allele Identifier: CA2978478
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78482544T>C
GRCh37 chr4:g.79403698T>C
gnomAD v2:
4:79403698 T / C
gnomAD v3:
4:78482544 T / C
gnomAD v4:
chr4-78482544-T-C
Joint Max Group AF 0.00004322 (AMR)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00003016 (AMR)
ClinVar Allele:
489875
ClinVar RCV:
RCV000593955
RCV002491187
ClinVar Variation:
498451
dbSNP:
191984935
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78482544T>C , CM000666.2:g.78482544T>C GRCh38
NC_000004.11:g.79403698T>C , CM000666.1:g.79403698T>C GRCh37
NC_000004.10:g.79622722T>C NCBI36
NG_015812.1:g.429975T>C
NG_015812.2:g.429975T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.8752+9T>C ENSP00000508201.1:n.8752+9T>C
ENST00000512123.4:c.8752+9T>C MANE Select ENSP00000422834.2:n.8752+9T>C
ENST00000512123.3:c.8752+9T>C ENSP00000422834.2:n.8752+9T>C
NM_025074.6:c.8752+9T>C NP_079350.5:n.8752+9T>C
XM_006714314.1:c.8746+9T>C XP_006714377.1:n.8746+9T>C
XM_006714316.1:c.8524+9T>C XP_006714379.1:n.8524+9T>C
XM_011532270.1:c.6451+9T>C XP_011530572.1:n.6451+9T>C
XM_011532271.1:c.3640+9T>C XP_011530573.1:n.3640+9T>C
XM_006714316.3:c.8524+9T>C XP_006714379.1:n.8524+9T>C
NM_025074.7:c.8752+9T>C MANE Select NP_079350.5:n.8752+9T>C
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