Canonical Allele Identifier: CA2979203
Community Standard Title: NM_025074.7(FRAS1):c.11317G>C (p.Val3773Leu)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78539312G>C , CM000666.2:g.78539312G>C GRCh38
NC_000004.11:g.79460466G>C , CM000666.1:g.79460466G>C GRCh37
NC_000004.10:g.79679490G>C NCBI36
NG_015812.1:g.486743G>C
NG_015812.2:g.486743G>C

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11317G>C MANE Select NP_079350.5:p.Val3773Leu
ENST00000512123.4:c.11317G>C MANE Select ENSP00000422834.2:p.Val3773Leu
NM_025074.6:c.11317G>C NP_079350.5:p.Val3773Leu
ENST00000512123.3:c.11317G>C ENSP00000422834.2:p.Val3773Leu
XM_006714314.1:c.11311G>C XP_006714377.1:p.Val3771Leu
XM_006714316.1:c.11089G>C XP_006714379.1:p.Val3697Leu
XM_006714316.3:c.11089G>C XP_006714379.1:p.Val3697Leu
XM_011532270.1:c.9016G>C XP_011530572.1:p.Val3006Leu
XM_011532271.1:c.6205G>C XP_011530573.1:p.Val2069Leu