Canonical Allele Identifier: CA357378318
Gene: FRAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1478764111
gnomAD v2: 4-79328963-G-A
gnomAD v4: 4-78407809-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78407809G>A , CM000666.2:g.78407809G>A GRCh38
NC_000004.11:g.79328963G>A , CM000666.1:g.79328963G>A GRCh37
NC_000004.10:g.79547987G>A NCBI36
NG_015812.1:g.355240G>A
NG_015812.2:g.355240G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325942.11:c.4276G>A ENSP00000326330.6:p.Ala1426Thr
ENST00000682513.1:c.4276G>A ENSP00000508201.1:p.Ala1426Thr
ENST00000684159.1:c.4276G>A ENSP00000506875.1:p.Ala1426Thr
ENST00000512123.4:c.4276G>A MANE Select ENSP00000422834.2:p.Ala1426Thr
ENST00000264899.10:c.845-36294G>A ENSP00000264899.7:n.845-36294G>A
ENST00000325942.10:c.4276G>A ENSP00000326330.6:p.Ala1426Thr
ENST00000512123.3:c.4276G>A ENSP00000422834.2:p.Ala1426Thr
NM_001166133.1:c.4276G>A NP_001159605.1:p.Ala1426Thr
NM_025074.6:c.4276G>A NP_079350.5:p.Ala1426Thr
XM_006714314.1:c.4276G>A XP_006714377.1:p.Ala1426Thr
XM_006714316.1:c.4276G>A XP_006714379.1:p.Ala1426Thr
XM_011532270.1:c.1975G>A XP_011530572.1:p.Ala659Thr
XM_006714316.3:c.4276G>A XP_006714379.1:p.Ala1426Thr
NM_025074.7:c.4276G>A MANE Select NP_079350.5:p.Ala1426Thr
NM_001166133.2:c.4276G>A NP_001159605.1:p.Ala1426Thr