Canonical Allele Identifier: CA357398391
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286550T>G , CM000666.2:g.80286550T>G GRCh38
NC_000004.11:g.81207704T>G , CM000666.1:g.81207704T>G GRCh37
NC_000004.10:g.81426728T>G NCBI36
NG_029501.1:g.24963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.685T>G MANE Select ENSP00000311697.7:p.Phe229Val
ENST00000312465.11:c.685T>G ENSP00000311697.7:p.Phe229Val
ENST00000456523.3:c.*209T>G ENSP00000398353.3:n.*209T>G
ENST00000503413.1:n.634T>G
ENST00000507780.1:c.342+11538T>G ENSP00000423903.1:n.342+11538T>G
NM_001291812.1:c.256T>G NP_001278741.1:p.Phe86Val
NM_004464.3:c.685T>G NP_004455.2:p.Phe229Val
NM_033143.2:c.*209T>G NP_149134.1:n.*209T>G
NM_001291812.2:c.256T>G NP_001278741.1:p.Phe86Val
NM_004464.4:c.685T>G MANE Select NP_004455.2:p.Phe229Val