Canonical Allele Identifier: CA2977050
Community Standard Title: NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78387683A>G , CM000666.2:g.78387683A>G GRCh38
NC_000004.11:g.79308837A>G , CM000666.1:g.79308837A>G GRCh37
NC_000004.10:g.79527861A>G NCBI36
NG_015812.1:g.335114A>G
NG_015812.2:g.335114A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.3957A>G MANE Select NP_079350.5:p.Gln1319=
ENST00000512123.4:c.3957A>G MANE Select ENSP00000422834.2:p.Gln1319=
NM_001166133.1:c.3957A>G NP_001159605.1:p.Gln1319=
NM_001166133.2:c.3957A>G NP_001159605.1:p.Gln1319=
NM_025074.6:c.3957A>G NP_079350.5:p.Gln1319=
ENST00000264899.10:c.845-56420A>G ENSP00000264899.7:n.845-56420A>G
ENST00000325942.10:c.3957A>G ENSP00000326330.6:p.Gln1319=
ENST00000325942.11:c.3957A>G ENSP00000326330.6:p.Gln1319=
ENST00000512123.3:c.3957A>G ENSP00000422834.2:p.Gln1319=
ENST00000682513.1:c.3957A>G ENSP00000508201.1:p.Gln1319=
ENST00000684159.1:c.3957A>G ENSP00000506875.1:p.Gln1319=
XM_006714314.1:c.3957A>G XP_006714377.1:p.Gln1319=
XM_006714316.1:c.3957A>G XP_006714379.1:p.Gln1319=
XM_006714316.3:c.3957A>G XP_006714379.1:p.Gln1319=
XM_011532270.1:c.1656A>G XP_011530572.1:p.Gln552=