Canonical Allele Identifier: CA1471368628
Gene: FGF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286554C= , CM000666.2:g.80286554C= GRCh38
NC_000004.11:g.81207708C= , CM000666.1:g.81207708C= GRCh37
NC_000004.10:g.81426732C= NCBI36
NG_029501.1:g.24967C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.689C= MANE Select ENSP00000311697.7:p.Thr230=
ENST00000312465.11:c.689C= ENSP00000311697.7:p.Thr230=
ENST00000456523.3:c.*213C= ENSP00000398353.3:n.*213C=
ENST00000503413.1:n.638C=
ENST00000507780.1:c.342+11542C= ENSP00000423903.1:n.342+11542C=
NM_001291812.1:c.260C= NP_001278741.1:p.Thr87=
NM_004464.3:c.689C= NP_004455.2:p.Thr230=
NM_033143.2:c.*213C= NP_149134.1:n.*213C=
NM_001291812.2:c.260C= NP_001278741.1:p.Thr87=
NM_004464.4:c.689C= MANE Select NP_004455.2:p.Thr230=