Canonical Allele Identifier: CA357398338
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207696A>G (hg19) chr4:g.80286542A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286542A>G , CM000666.2:g.80286542A>G GRCh38
NC_000004.11:g.81207696A>G , CM000666.1:g.81207696A>G GRCh37
NC_000004.10:g.81426720A>G NCBI36
NG_029501.1:g.24955A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.677A>G MANE Select ENSP00000311697.7:p.Glu226Gly
ENST00000312465.11:c.677A>G ENSP00000311697.7:p.Glu226Gly
ENST00000456523.3:c.*201A>G ENSP00000398353.3:n.*201A>G
ENST00000503413.1:n.626A>G
ENST00000507780.1:c.342+11530A>G ENSP00000423903.1:n.342+11530A>G
NM_001291812.1:c.248A>G NP_001278741.1:p.Glu83Gly
NM_004464.3:c.677A>G NP_004455.2:p.Glu226Gly
NM_033143.2:c.*201A>G NP_149134.1:n.*201A>G
NM_001291812.2:c.248A>G NP_001278741.1:p.Glu83Gly
NM_004464.4:c.677A>G MANE Select NP_004455.2:p.Glu226Gly
Search 100 bp 5'
Search 100 bp 3'