Canonical Allele Identifier: CA2976856
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78375729T>C
GRCh37 chr4:g.79296883T>C
gnomAD v2:
4:79296883 T / C
gnomAD v3:
4:78375729 T / C
gnomAD v4:
chr4-78375729-T-C
Joint Max Group AF 0.00002609 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002424 (NFE)
ClinVar Allele:
294250
ClinVar RCV:
RCV000398648
RCV003708526
ClinVar Variation:
349705
dbSNP:
776449329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78375729T>C , CM000666.2:g.78375729T>C GRCh38
NC_000004.11:g.79296883T>C , CM000666.1:g.79296883T>C GRCh37
NC_000004.10:g.79515907T>C NCBI36
NG_015812.1:g.323160T>C
NG_015812.2:g.323160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.3152-10T>C ENSP00000326330.6:n.3152-10T>C
ENST00000682513.1:c.3152-10T>C ENSP00000508201.1:n.3152-10T>C
ENST00000684159.1:c.3152-10T>C ENSP00000506875.1:n.3152-10T>C
ENST00000512123.4:c.3152-10T>C MANE Select ENSP00000422834.2:n.3152-10T>C
ENST00000264899.10:c.845-68374T>C ENSP00000264899.7:n.845-68374T>C
ENST00000325942.10:c.3152-10T>C ENSP00000326330.6:n.3152-10T>C
ENST00000512123.3:c.3152-10T>C ENSP00000422834.2:n.3152-10T>C
NM_001166133.1:c.3152-10T>C NP_001159605.1:n.3152-10T>C
NM_025074.6:c.3152-10T>C NP_079350.5:n.3152-10T>C
XM_006714314.1:c.3152-10T>C XP_006714377.1:n.3152-10T>C
XM_006714316.1:c.3152-10T>C XP_006714379.1:n.3152-10T>C
XM_011532270.1:c.851-10T>C XP_011530572.1:n.851-10T>C
XM_006714316.3:c.3152-10T>C XP_006714379.1:n.3152-10T>C
NM_025074.7:c.3152-10T>C MANE Select NP_079350.5:n.3152-10T>C
NM_001166133.2:c.3152-10T>C NP_001159605.1:n.3152-10T>C
Search 100 bp 5'
Search 100 bp 3'