Canonical Allele Identifier: CA2978361
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78479726A>G
GRCh37 chr4:g.79400880A>G
gnomAD v2:
4:79400880 A / G
gnomAD v3:
4:78479726 A / G
gnomAD v4:
chr4-78479726-A-G
Joint Max Group AF 0.00034743 (NFE)
Genomes Max Group AF 0.00029241 (NFE)
Exomes Max Group AF 0.00034434 (NFE)
ClinVar Allele:
299563
ClinVar RCV:
RCV000336626
RCV000926026
ClinVar Variation:
349766
dbSNP:
373820698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78479726A>G , CM000666.2:g.78479726A>G GRCh38
NC_000004.11:g.79400880A>G , CM000666.1:g.79400880A>G GRCh37
NC_000004.10:g.79619904A>G NCBI36
NG_015812.1:g.427157A>G
NG_015812.2:g.427157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.8443+8A>G ENSP00000508201.1:n.8443+8A>G
ENST00000512123.4:c.8443+8A>G MANE Select ENSP00000422834.2:n.8443+8A>G
ENST00000512123.3:c.8443+8A>G ENSP00000422834.2:n.8443+8A>G
NM_025074.6:c.8443+8A>G NP_079350.5:n.8443+8A>G
XM_006714314.1:c.8437+8A>G XP_006714377.1:n.8437+8A>G
XM_006714316.1:c.8215+8A>G XP_006714379.1:n.8215+8A>G
XM_011532270.1:c.6142+8A>G XP_011530572.1:n.6142+8A>G
XM_011532271.1:c.3331+8A>G XP_011530573.1:n.3331+8A>G
XM_006714316.3:c.8215+8A>G XP_006714379.1:n.8215+8A>G
NM_025074.7:c.8443+8A>G MANE Select NP_079350.5:n.8443+8A>G
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