Canonical Allele Identifier: CA4458973
Community Standard Title: NM_001024613.4(FEZF1):c.553T>C (p.Phe185Leu)
Gene: FEZF1 HGNC NCBI
FEZF1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.122303885A>G , CM000669.2:g.122303885A>G GRCh38
NC_000007.13:g.121943939A>G , CM000669.1:g.121943939A>G GRCh37
NC_000007.12:g.121731175A>G NCBI36
NG_041775.1:g.5627T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001024613.4:c.553T>C (FEZF1) MANE Select NP_001019784.2:p.Phe185Leu
ENST00000442488.7:c.553T>C (FEZF1) MANE Select ENSP00000411145.2:p.Phe185Leu
NM_001024613.3:c.553T>C (FEZF1) NP_001019784.2:p.Phe185Leu
NM_001160264.2:c.430-27T>C (FEZF1) NP_001153736.1:n.430-27T>C
NR_036484.1:n.228A>G (FEZF1-AS1)
ENST00000427185.2:c.430-27T>C (FEZF1) ENSP00000392727.2:n.430-27T>C
ENST00000442488.6:c.553T>C (FEZF1) ENSP00000411145.2:p.Phe185Leu
XM_005250337.2:c.553T>C (FEZF1) XP_005250394.1:p.Phe185Leu
XM_005250337.3:c.553T>C (FEZF1) XP_005250394.1:p.Phe185Leu
XM_011516200.1:c.553T>C (FEZF1) XP_011514502.1:p.Phe185Leu
XM_011516201.1:c.553T>C (FEZF1) XP_011514503.1:p.Phe185Leu
XM_011516202.1:c.430-27T>C (FEZF1) XP_011514504.1:n.430-27T>C
XM_011516202.2:c.430-27T>C (FEZF1) XP_011514504.1:n.430-27T>C