Canonical Allele Identifier: CA2978850
Community Standard Title: NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78513419C>G , CM000666.2:g.78513419C>G GRCh38
NC_000004.11:g.79434573C>G , CM000666.1:g.79434573C>G GRCh37
NC_000004.10:g.79653597C>G NCBI36
NG_015812.1:g.460850C>G
NG_015812.2:g.460850C>G

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.10041C>G MANE Select NP_079350.5:p.His3347Gln
ENST00000512123.4:c.10041C>G MANE Select ENSP00000422834.2:p.His3347Gln
NM_025074.6:c.10041C>G NP_079350.5:p.His3347Gln
ENST00000512123.3:c.10041C>G ENSP00000422834.2:p.His3347Gln
XM_006714314.1:c.10035C>G XP_006714377.1:p.His3345Gln
XM_006714316.1:c.9813C>G XP_006714379.1:p.His3271Gln
XM_006714316.3:c.9813C>G XP_006714379.1:p.His3271Gln
XM_011532270.1:c.7740C>G XP_011530572.1:p.His2580Gln
XM_011532271.1:c.4929C>G XP_011530573.1:p.His1643Gln