Canonical Allele Identifier: CA357398354

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207699T>A (hg19) ; chr4:g.80286545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286545T>A , CM000666.2:g.80286545T>A	GRCh38
NC_000004.11:g.81207699T>A , CM000666.1:g.81207699T>A	GRCh37
NC_000004.10:g.81426723T>A	NCBI36
NG_029501.1:g.24958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.680T>A MANE Select	ENSP00000311697.7:p.Leu227His
ENST00000312465.11:c.680T>A	ENSP00000311697.7:p.Leu227His
ENST00000456523.3:c.*204T>A	ENSP00000398353.3:n.*204T>A
ENST00000503413.1:n.629T>A
ENST00000507780.1:c.342+11533T>A	ENSP00000423903.1:n.342+11533T>A
NM_001291812.1:c.251T>A	NP_001278741.1:p.Leu84His
NM_004464.3:c.680T>A	NP_004455.2:p.Leu227His
NM_033143.2:c.*204T>A	NP_149134.1:n.*204T>A
NM_001291812.2:c.251T>A	NP_001278741.1:p.Leu84His
NM_004464.4:c.680T>A MANE Select	NP_004455.2:p.Leu227His