Canonical Allele Identifier: CA2978685
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78508727G>A
GRCh37 chr4:g.79429881G>A
gnomAD v2:
4:79429881 G / A
gnomAD v3:
4:78508727 G / A
gnomAD v4:
chr4-78508727-G-A
Joint Max Group AF 0.00008146 (AFR)
Genomes Max Group AF 0.00004731 (AFR)
Exomes Max Group AF 0.00007714 (AFR)
ClinVar Allele:
294331
ClinVar RCV:
RCV000284151
RCV003556359
ClinVar Variation:
349784
dbSNP:
367680303
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78508727G>A , CM000666.2:g.78508727G>A GRCh38
NC_000004.11:g.79429881G>A , CM000666.1:g.79429881G>A GRCh37
NC_000004.10:g.79648905G>A NCBI36
NG_015812.1:g.456158G>A
NG_015812.2:g.456158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.9505-4G>A ENSP00000508201.1:n.9505-4G>A
ENST00000512123.4:c.9505-4G>A MANE Select ENSP00000422834.2:n.9505-4G>A
ENST00000512123.3:c.9505-4G>A ENSP00000422834.2:n.9505-4G>A
NM_025074.6:c.9505-4G>A NP_079350.5:n.9505-4G>A
XM_006714314.1:c.9499-4G>A XP_006714377.1:n.9499-4G>A
XM_006714316.1:c.9277-4G>A XP_006714379.1:n.9277-4G>A
XM_011532270.1:c.7204-4G>A XP_011530572.1:n.7204-4G>A
XM_011532271.1:c.4393-4G>A XP_011530573.1:n.4393-4G>A
XM_006714316.3:c.9277-4G>A XP_006714379.1:n.9277-4G>A
NM_025074.7:c.9505-4G>A MANE Select NP_079350.5:n.9505-4G>A
Search 100 bp 5'
Search 100 bp 3'