Canonical Allele Identifier: CA100032744

Gene: FGF5

Linked Data

• dbSNP Id: rs1038287777
• gnomAD v3: 4-80286490-CA-C
• gnomAD v4: 4-80286490-CA-C
• MyVariant Identifiers: chr4:g.81207645del (hg19) ; chr4:g.80286491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286491del , CM000666.2:g.80286491del	GRCh38
NC_000004.11:g.81207645del , CM000666.1:g.81207645del	GRCh37
NC_000004.10:g.81426669del	NCBI36
NG_029501.1:g.24904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.626del MANE Select	ENSP00000311697.7:p.Gln209ArgfsTer?
ENST00000312465.11:c.626del	ENSP00000311697.7:p.Gln209ArgfsTer?
ENST00000456523.3:c.*150del	ENSP00000398353.3:n.*150del
ENST00000503413.1:n.575del
ENST00000507780.1:c.342+11479del	ENSP00000423903.1:n.342+11479del
NM_001291812.1:c.197del	NP_001278741.1:p.Gln66ArgfsTer?
NM_004464.3:c.626del	NP_004455.2:p.Gln209ArgfsTer?
NM_033143.2:c.*150del	NP_149134.1:n.*150del
NM_001291812.2:c.197del	NP_001278741.1:p.Gln66ArgfsTer?
NM_004464.4:c.626del MANE Select	NP_004455.2:p.Gln209ArgfsTer?