Canonical Allele Identifier: CA3074318
Community Standard Title: NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)
Gene: FAT4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125490009T>C , CM000666.2:g.125490009T>C GRCh38
NC_000004.11:g.126411164T>C , CM000666.1:g.126411164T>C GRCh37
NC_000004.10:g.126630614T>C NCBI36
NG_033865.1:g.178598T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001291303.3:c.13193T>C MANE Select NP_001278232.1:p.Ile4398Thr
ENST00000394329.9:c.13193T>C MANE Select ENSP00000377862.4:p.Ile4398Thr
NM_001291285.1:c.13190T>C NP_001278214.1:p.Ile4397Thr
NM_001291285.2:c.13190T>C NP_001278214.1:p.Ile4397Thr
NM_001291285.3:c.13190T>C NP_001278214.1:p.Ile4397Thr
NM_001291303.1:c.13193T>C NP_001278232.1:p.Ile4398Thr
NM_024582.4:c.13187T>C NP_078858.4:p.Ile4396Thr
NM_024582.5:c.13187T>C NP_078858.4:p.Ile4396Thr
NM_024582.6:c.13187T>C NP_078858.4:p.Ile4396Thr
ENST00000335110.5:c.7910T>C ENSP00000335169.5:p.Ile2637Thr
ENST00000394329.7:c.13187T>C ENSP00000377862.3:p.Ile4396Thr
ENST00000674496.2:c.7964T>C ENSP00000501473.2:p.Ile2655Thr
XM_011532236.1:c.13193T>C XP_011530538.1:p.Ile4398Thr
XM_011532236.2:c.13193T>C XP_011530538.1:p.Ile4398Thr
XM_011532237.1:c.7964T>C XP_011530539.1:p.Ile2655Thr
XM_011532237.2:c.7964T>C XP_011530539.1:p.Ile2655Thr