Canonical Allele Identifier: CA357398379

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207702C>T (hg19) ; chr4:g.80286548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286548C>T , CM000666.2:g.80286548C>T	GRCh38
NC_000004.11:g.81207702C>T , CM000666.1:g.81207702C>T	GRCh37
NC_000004.10:g.81426726C>T	NCBI36
NG_029501.1:g.24961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.683C>T MANE Select	ENSP00000311697.7:p.Ser228Phe
ENST00000312465.11:c.683C>T	ENSP00000311697.7:p.Ser228Phe
ENST00000456523.3:c.*207C>T	ENSP00000398353.3:n.*207C>T
ENST00000503413.1:n.632C>T
ENST00000507780.1:c.342+11536C>T	ENSP00000423903.1:n.342+11536C>T
NM_001291812.1:c.254C>T	NP_001278741.1:p.Ser85Phe
NM_004464.3:c.683C>T	NP_004455.2:p.Ser228Phe
NM_033143.2:c.*207C>T	NP_149134.1:n.*207C>T
NM_001291812.2:c.254C>T	NP_001278741.1:p.Ser85Phe
NM_004464.4:c.683C>T MANE Select	NP_004455.2:p.Ser228Phe