Canonical Allele Identifier: CA3166910
Community Standard Title: NM_005245.4(FAT1):c.3785G>A (p.Arg1262Gln)
Gene: FAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186636772C>T , CM000666.2:g.186636772C>T GRCh38
NC_000004.11:g.187557926C>T , CM000666.1:g.187557926C>T GRCh37
NC_000004.10:g.187794920C>T NCBI36
NG_046994.1:g.95144G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005245.4:c.3785G>A MANE Select NP_005236.2:p.Arg1262Gln
ENST00000441802.7:c.3785G>A MANE Select ENSP00000406229.2:p.Arg1262Gln
NM_005245.3:c.3785G>A NP_005236.2:p.Arg1262Gln
ENST00000441802.6:c.3785G>A ENSP00000406229.2:p.Arg1262Gln
ENST00000614102.4:c.3785G>A ENSP00000479573.1:p.Arg1262Gln
XM_005262834.2:c.3785G>A XP_005262891.1:p.Arg1262Gln
XM_005262834.3:c.3785G>A XP_005262891.1:p.Arg1262Gln
XM_005262835.1:c.3785G>A XP_005262892.1:p.Arg1262Gln
XM_005262835.2:c.3785G>A XP_005262892.1:p.Arg1262Gln
XM_006714139.2:c.3785G>A XP_006714202.1:p.Arg1262Gln
XM_006714139.3:c.3785G>A XP_006714202.1:p.Arg1262Gln