Canonical Allele Identifier: CA357401161
Community Standard Title: NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78464062C>T , CM000666.2:g.78464062C>T GRCh38
NC_000004.11:g.79385216C>T , CM000666.1:g.79385216C>T GRCh37
NC_000004.10:g.79604240C>T NCBI36
NG_015812.1:g.411493C>T
NG_015812.2:g.411493C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.6805C>T MANE Select NP_079350.5:p.Arg2269Ter
ENST00000512123.4:c.6805C>T MANE Select ENSP00000422834.2:p.Arg2269Ter
NM_025074.6:c.6805C>T NP_079350.5:p.Arg2269Ter
ENST00000512123.3:c.6805C>T ENSP00000422834.2:p.Arg2269Ter
ENST00000682513.1:c.6805C>T ENSP00000508201.1:p.Arg2269Ter
XM_006714314.1:c.6799C>T XP_006714377.1:p.Arg2267Ter
XM_006714316.1:c.6805C>T XP_006714379.1:p.Arg2269Ter
XM_006714316.3:c.6805C>T XP_006714379.1:p.Arg2269Ter
XM_011532270.1:c.4504C>T XP_011530572.1:p.Arg1502Ter
XM_011532271.1:c.1693C>T XP_011530573.1:p.Arg565Ter