Canonical Allele Identifier: CA3074075
Community Standard Title: NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125477197C>G , CM000666.2:g.125477197C>G GRCh38
NC_000004.11:g.126398352C>G , CM000666.1:g.126398352C>G GRCh37
NC_000004.10:g.126617802C>G NCBI36
NG_033865.1:g.165786C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.12342C>G MANE Select NP_001278232.1:p.Ile4114Met
ENST00000394329.9:c.12342C>G MANE Select ENSP00000377862.4:p.Ile4114Met
NM_001291285.1:c.12342C>G NP_001278214.1:p.Ile4114Met
NM_001291285.2:c.12342C>G NP_001278214.1:p.Ile4114Met
NM_001291285.3:c.12342C>G NP_001278214.1:p.Ile4114Met
NM_001291303.1:c.12342C>G NP_001278232.1:p.Ile4114Met
NM_024582.4:c.12336C>G NP_078858.4:p.Ile4112Met
NM_024582.5:c.12336C>G NP_078858.4:p.Ile4112Met
NM_024582.6:c.12336C>G NP_078858.4:p.Ile4112Met
ENST00000335110.5:c.7125C>G ENSP00000335169.5:p.Ile2375Met
ENST00000394329.7:c.12336C>G ENSP00000377862.3:p.Ile4112Met
ENST00000674496.2:c.7113C>G ENSP00000501473.2:p.Ile2371Met
XM_011532236.1:c.12342C>G XP_011530538.1:p.Ile4114Met
XM_011532236.2:c.12342C>G XP_011530538.1:p.Ile4114Met
XM_011532237.1:c.7113C>G XP_011530539.1:p.Ile2371Met
XM_011532237.2:c.7113C>G XP_011530539.1:p.Ile2371Met