Canonical Allele Identifier: CA2979181
Community Standard Title: NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78537176C>A , CM000666.2:g.78537176C>A GRCh38
NC_000004.11:g.79458330C>A , CM000666.1:g.79458330C>A GRCh37
NC_000004.10:g.79677354C>A NCBI36
NG_015812.1:g.484607C>A
NG_015812.2:g.484607C>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11274C>A MANE Select NP_079350.5:p.His3758Gln
ENST00000512123.4:c.11274C>A MANE Select ENSP00000422834.2:p.His3758Gln
NM_025074.6:c.11274C>A NP_079350.5:p.His3758Gln
ENST00000512123.3:c.11274C>A ENSP00000422834.2:p.His3758Gln
XM_006714314.1:c.11268C>A XP_006714377.1:p.His3756Gln
XM_006714316.1:c.11046C>A XP_006714379.1:p.His3682Gln
XM_006714316.3:c.11046C>A XP_006714379.1:p.His3682Gln
XM_011532270.1:c.8973C>A XP_011530572.1:p.His2991Gln
XM_011532271.1:c.6162C>A XP_011530573.1:p.His2054Gln