Canonical Allele Identifier: CA16021014
Community Standard Title: NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)
Gene: FBXL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98917618A>G , CM000668.2:g.98917618A>G GRCh38
NC_000006.11:g.99365494A>G , CM000668.1:g.99365494A>G GRCh37
NC_000006.10:g.99472215A>G NCBI36
NG_033903.1:g.35389T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001278716.2:c.614T>C MANE Select NP_001265645.1:p.Ile205Thr
ENST00000369244.7:c.614T>C MANE Select ENSP00000358247.1:p.Ile205Thr
NM_001278716.1:c.614T>C NP_001265645.1:p.Ile205Thr
NM_012160.4:c.614T>C NP_036292.2:p.Ile205Thr
NM_012160.5:c.614T>C NP_036292.2:p.Ile205Thr
NR_103836.1:n.903+8859T>C
NR_103836.2:n.843+8859T>C
NR_103837.1:n.903+8859T>C
NR_103837.2:n.843+8859T>C
ENST00000229971.2:c.614T>C ENSP00000229971.1:p.Ile205Thr
ENST00000369244.6:c.614T>C ENSP00000358247.1:p.Ile205Thr
XM_005266930.1:c.614T>C XP_005266987.1:p.Ile205Thr
XM_005266930.3:c.614T>C XP_005266987.1:p.Ile205Thr
XM_011535748.1:c.614T>C XP_011534050.1:p.Ile205Thr
XM_011535748.3:c.614T>C XP_011534050.1:p.Ile205Thr
XM_017010726.1:c.614T>C XP_016866215.1:p.Ile205Thr
XM_017010727.2:c.614T>C XP_016866216.1:p.Ile205Thr
XM_017010728.1:c.-113T>C XP_016866217.1:n.-113T>C