Canonical Allele Identifier: CA357398999

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207762C>G (hg19) ; chr4:g.80286608C>G (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286608C>G , CM000666.2:g.80286608C>G	GRCh38
NC_000004.11:g.81207762C>G , CM000666.1:g.81207762C>G	GRCh37
NC_000004.10:g.81426786C>G	NCBI36
NG_029501.1:g.25021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.743C>G MANE Select	ENSP00000311697.7:p.Pro248Arg
ENST00000312465.11:c.743C>G	ENSP00000311697.7:p.Pro248Arg
ENST00000456523.3:c.*267C>G	ENSP00000398353.3:n.*267C>G
ENST00000503413.1:n.692C>G
ENST00000507780.1:c.342+11596C>G	ENSP00000423903.1:n.342+11596C>G
NM_001291812.1:c.314C>G	NP_001278741.1:p.Pro105Arg
NM_004464.3:c.743C>G	NP_004455.2:p.Pro248Arg
NM_033143.2:c.*267C>G	NP_149134.1:n.*267C>G
NM_001291812.2:c.314C>G	NP_001278741.1:p.Pro105Arg
NM_004464.4:c.743C>G MANE Select	NP_004455.2:p.Pro248Arg