Canonical Allele Identifier: CA2979199
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78539286A>C
GRCh37 chr4:g.79460440A>C
gnomAD v2:
4:79460440 A / C
gnomAD v3:
4:78539286 A / C
gnomAD v4:
chr4-78539286-A-C
Joint Max Group AF 0.0000404 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004114 (NFE)
ClinVar RCV:
RCV000394486
RCV003766019
ClinVar Variation:
349814
dbSNP:
368551584
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78539286A>C , CM000666.2:g.78539286A>C GRCh38
NC_000004.11:g.79460440A>C , CM000666.1:g.79460440A>C GRCh37
NC_000004.10:g.79679464A>C NCBI36
NG_015812.1:g.486717A>C
NG_015812.2:g.486717A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000512123.4:c.11299-8A>C MANE Select ENSP00000422834.2:n.11299-8A>C
ENST00000512123.3:c.11299-8A>C ENSP00000422834.2:n.11299-8A>C
NM_025074.6:c.11299-8A>C NP_079350.5:n.11299-8A>C
XM_006714314.1:c.11293-8A>C XP_006714377.1:n.11293-8A>C
XM_006714316.1:c.11071-8A>C XP_006714379.1:n.11071-8A>C
XM_011532270.1:c.8998-8A>C XP_011530572.1:n.8998-8A>C
XM_011532271.1:c.6187-8A>C XP_011530573.1:n.6187-8A>C
XM_006714316.3:c.11071-8A>C XP_006714379.1:n.11071-8A>C
NM_025074.7:c.11299-8A>C MANE Select NP_079350.5:n.11299-8A>C
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