Canonical Allele Identifier: CA2978374
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78481789T>C
GRCh37 chr4:g.79402943T>C
gnomAD v2:
4:79402943 T / C
gnomAD v3:
4:78481789 T / C
gnomAD v4:
chr4-78481789-T-C
Joint Max Group AF 0.00215418 (SAS)
Genomes Max Group AF 0.00127773 (SAS)
Exomes Max Group AF 0.00215483 (SAS)
ClinVar Allele:
299586
ClinVar RCV:
RCV000394370
RCV003766013
ClinVar Variation:
349767
dbSNP:
373332959
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78481789T>C , CM000666.2:g.78481789T>C GRCh38
NC_000004.11:g.79402943T>C , CM000666.1:g.79402943T>C GRCh37
NC_000004.10:g.79621967T>C NCBI36
NG_015812.1:g.429220T>C
NG_015812.2:g.429220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.8444-15T>C ENSP00000508201.1:n.8444-15T>C
ENST00000512123.4:c.8444-15T>C MANE Select ENSP00000422834.2:n.8444-15T>C
ENST00000512123.3:c.8444-15T>C ENSP00000422834.2:n.8444-15T>C
NM_025074.6:c.8444-15T>C NP_079350.5:n.8444-15T>C
XM_006714314.1:c.8438-15T>C XP_006714377.1:n.8438-15T>C
XM_006714316.1:c.8216-15T>C XP_006714379.1:n.8216-15T>C
XM_011532270.1:c.6143-15T>C XP_011530572.1:n.6143-15T>C
XM_011532271.1:c.3332-15T>C XP_011530573.1:n.3332-15T>C
XM_006714316.3:c.8216-15T>C XP_006714379.1:n.8216-15T>C
NM_025074.7:c.8444-15T>C MANE Select NP_079350.5:n.8444-15T>C
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