Canonical Allele Identifier: CA369032977
Community Standard Title: NM_001024613.4(FEZF1):c.555C>G (p.Phe185Leu)
Gene: FEZF1 HGNC NCBI
FEZF1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.122303883G>C , CM000669.2:g.122303883G>C GRCh38
NC_000007.13:g.121943937G>C , CM000669.1:g.121943937G>C GRCh37
NC_000007.12:g.121731173G>C NCBI36
NG_041775.1:g.5629C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001024613.4:c.555C>G (FEZF1) MANE Select NP_001019784.2:p.Phe185Leu
ENST00000442488.7:c.555C>G (FEZF1) MANE Select ENSP00000411145.2:p.Phe185Leu
NM_001024613.3:c.555C>G (FEZF1) NP_001019784.2:p.Phe185Leu
NM_001160264.2:c.430-25C>G (FEZF1) NP_001153736.1:n.430-25C>G
NR_036484.1:n.226G>C (FEZF1-AS1)
ENST00000427185.2:c.430-25C>G (FEZF1) ENSP00000392727.2:n.430-25C>G
ENST00000442488.6:c.555C>G (FEZF1) ENSP00000411145.2:p.Phe185Leu
XM_005250337.2:c.555C>G (FEZF1) XP_005250394.1:p.Phe185Leu
XM_005250337.3:c.555C>G (FEZF1) XP_005250394.1:p.Phe185Leu
XM_011516200.1:c.555C>G (FEZF1) XP_011514502.1:p.Phe185Leu
XM_011516201.1:c.555C>G (FEZF1) XP_011514503.1:p.Phe185Leu
XM_011516202.1:c.430-25C>G (FEZF1) XP_011514504.1:n.430-25C>G
XM_011516202.2:c.430-25C>G (FEZF1) XP_011514504.1:n.430-25C>G