Canonical Allele Identifier: CA357382212
Gene: FRAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1415712225
gnomAD v2: 4-79432491-A-G
gnomAD v4: 4-78511337-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78511337A>G , CM000666.2:g.78511337A>G GRCh38
NC_000004.11:g.79432491A>G , CM000666.1:g.79432491A>G GRCh37
NC_000004.10:g.79651515A>G NCBI36
NG_015812.1:g.458768A>G
NG_015812.2:g.458768A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.9844A>G ENSP00000508201.1:p.Lys3282Glu
ENST00000512123.4:c.9844A>G MANE Select ENSP00000422834.2:p.Lys3282Glu
ENST00000512123.3:c.9844A>G ENSP00000422834.2:p.Lys3282Glu
NM_025074.6:c.9844A>G NP_079350.5:p.Lys3282Glu
XM_006714314.1:c.9838A>G XP_006714377.1:p.Lys3280Glu
XM_006714316.1:c.9616A>G XP_006714379.1:p.Lys3206Glu
XM_011532270.1:c.7543A>G XP_011530572.1:p.Lys2515Glu
XM_011532271.1:c.4732A>G XP_011530573.1:p.Lys1578Glu
XM_006714316.3:c.9616A>G XP_006714379.1:p.Lys3206Glu
NM_025074.7:c.9844A>G MANE Select NP_079350.5:p.Lys3282Glu