Canonical Allele Identifier: CA2979286
Community Standard Title: NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78540802T>C , CM000666.2:g.78540802T>C GRCh38
NC_000004.11:g.79461956T>C , CM000666.1:g.79461956T>C GRCh37
NC_000004.10:g.79680980T>C NCBI36
NG_015812.1:g.488233T>C
NG_015812.2:g.488233T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11717T>C MANE Select NP_079350.5:p.Ile3906Thr
ENST00000512123.4:c.11717T>C MANE Select ENSP00000422834.2:p.Ile3906Thr
NM_025074.6:c.11717T>C NP_079350.5:p.Ile3906Thr
ENST00000512123.3:c.11717T>C ENSP00000422834.2:p.Ile3906Thr
XM_006714314.1:c.11711T>C XP_006714377.1:p.Ile3904Thr
XM_006714316.1:c.11489T>C XP_006714379.1:p.Ile3830Thr
XM_006714316.3:c.11489T>C XP_006714379.1:p.Ile3830Thr
XM_011532270.1:c.9416T>C XP_011530572.1:p.Ile3139Thr
XM_011532271.1:c.6605T>C XP_011530573.1:p.Ile2202Thr