Canonical Allele Identifier: CA244749
Gene: FRAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196928
dbSNP Id: rs1872267
gnomAD v2: 4-79343055-C-T
gnomAD v3: 4-78421901-C-T
gnomAD v4: 4-78421901-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78421901C>T , CM000666.2:g.78421901C>T GRCh38
NC_000004.11:g.79343055C>T , CM000666.1:g.79343055C>T GRCh37
NC_000004.10:g.79562079C>T NCBI36
NG_015812.1:g.369332C>T
NG_015812.2:g.369332C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325942.11:c.4579C>T ENSP00000326330.6:p.Arg1527Trp
ENST00000682513.1:c.4579C>T ENSP00000508201.1:p.Arg1527Trp
ENST00000684159.1:c.4579C>T ENSP00000506875.1:p.Arg1527Trp
ENST00000512123.4:c.4579C>T MANE Select ENSP00000422834.2:p.Arg1527Trp
ENST00000264899.10:c.845-22202C>T ENSP00000264899.7:n.845-22202C>T
ENST00000325942.10:c.4579C>T ENSP00000326330.6:p.Arg1527Trp
ENST00000510944.3:c.27-2487C>T
ENST00000512123.3:c.4579C>T ENSP00000422834.2:p.Arg1527Trp
NM_001166133.1:c.4579C>T NP_001159605.1:p.Arg1527Trp
NM_025074.6:c.4579C>T NP_079350.5:p.Arg1527Trp
XM_006714314.1:c.4579C>T XP_006714377.1:p.Arg1527Trp
XM_006714316.1:c.4579C>T XP_006714379.1:p.Arg1527Trp
XM_011532270.1:c.2278C>T XP_011530572.1:p.Arg760Trp
XM_006714316.3:c.4579C>T XP_006714379.1:p.Arg1527Trp
NM_025074.7:c.4579C>T MANE Select NP_079350.5:p.Arg1527Trp
NM_001166133.2:c.4579C>T NP_001159605.1:p.Arg1527Trp