Canonical Allele Identifier: CA357398418
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207706C>A (hg19) chr4:g.80286552C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286552C>A , CM000666.2:g.80286552C>A GRCh38
NC_000004.11:g.81207706C>A , CM000666.1:g.81207706C>A GRCh37
NC_000004.10:g.81426730C>A NCBI36
NG_029501.1:g.24965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.687C>A MANE Select ENSP00000311697.7:p.Phe229Leu
ENST00000312465.11:c.687C>A ENSP00000311697.7:p.Phe229Leu
ENST00000456523.3:c.*211C>A ENSP00000398353.3:n.*211C>A
ENST00000503413.1:n.636C>A
ENST00000507780.1:c.342+11540C>A ENSP00000423903.1:n.342+11540C>A
NM_001291812.1:c.258C>A NP_001278741.1:p.Phe86Leu
NM_004464.3:c.687C>A NP_004455.2:p.Phe229Leu
NM_033143.2:c.*211C>A NP_149134.1:n.*211C>A
NM_001291812.2:c.258C>A NP_001278741.1:p.Phe86Leu
NM_004464.4:c.687C>A MANE Select NP_004455.2:p.Phe229Leu
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