Canonical Allele Identifier: CA2976241
Gene: FRAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.78284393C>T
GRCh37 chr4:g.79205547C>T
gnomAD v2:
4:79205547 C / T
gnomAD v3:
4:78284393 C / T
gnomAD v4:
chr4-78284393-C-T
Joint Max Group AF 0.00001883 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
ClinVar Allele:
295740
ClinVar RCV:
RCV000363207
RCV003766011
ClinVar Variation:
349675
dbSNP:
370606261
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78284393C>T , CM000666.2:g.78284393C>T GRCh38
NC_000004.11:g.79205547C>T , CM000666.1:g.79205547C>T GRCh37
NC_000004.10:g.79424571C>T NCBI36
NG_015812.1:g.231824C>T
NG_015812.2:g.231824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.1256-12C>T ENSP00000326330.6:n.1256-12C>T
ENST00000502446.6:c.1256-12C>T ENSP00000423645.2:n.1256-12C>T
ENST00000508900.2:c.1256-12C>T ENSP00000423809.2:n.1256-12C>T
ENST00000682513.1:c.1256-12C>T ENSP00000508201.1:n.1256-12C>T
ENST00000682583.1:n.469-12C>T
ENST00000684159.1:c.1256-12C>T ENSP00000506875.1:n.1256-12C>T
ENST00000512123.4:c.1256-12C>T MANE Select ENSP00000422834.2:n.1256-12C>T
ENST00000264899.10:c.844+17098C>T ENSP00000264899.7:n.844+17098C>T
ENST00000325942.10:c.1256-12C>T ENSP00000326330.6:n.1256-12C>T
ENST00000502446.5:c.1042-12C>T
ENST00000508900.1:c.783-12C>T
ENST00000512123.3:c.1256-12C>T ENSP00000422834.2:n.1256-12C>T
NM_001166133.1:c.1256-12C>T NP_001159605.1:n.1256-12C>T
NM_025074.6:c.1256-12C>T NP_079350.5:n.1256-12C>T
XM_006714314.1:c.1256-12C>T XP_006714377.1:n.1256-12C>T
XM_006714316.1:c.1256-12C>T XP_006714379.1:n.1256-12C>T
XM_006714316.3:c.1256-12C>T XP_006714379.1:n.1256-12C>T
NM_025074.7:c.1256-12C>T MANE Select NP_079350.5:n.1256-12C>T
NM_001166133.2:c.1256-12C>T NP_001159605.1:n.1256-12C>T
Search 100 bp 5'
Search 100 bp 3'