Canonical Allele Identifier: CA2982694

Gene: FGF5

Linked Data

• dbSNP Id: rs761416300
• ExAC: 4:81207563 GA / G
• gnomAD v2: 4-81207563-GA-G
• gnomAD v4: 4-80286409-GA-G
• MyVariant Identifiers: chr4:g.81207564del (hg19) ; chr4:g.80286410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286415del , CM000666.2:g.80286415del	GRCh38
NC_000004.11:g.81207569del , CM000666.1:g.81207569del	GRCh37
NC_000004.10:g.81426593del	NCBI36
NG_029501.1:g.24828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.550del MANE Select	ENSP00000311697.7:p.Thr184GlnfsTer9
ENST00000312465.11:c.550del	ENSP00000311697.7:p.Thr184GlnfsTer9
ENST00000456523.3:c.*74del	ENSP00000398353.3:n.*74del
ENST00000503413.1:n.499del
ENST00000507780.1:c.342+11403del	ENSP00000423903.1:n.342+11403del
NM_001291812.1:c.121del	NP_001278741.1:p.Thr41GlnfsTer9
NM_004464.3:c.550del	NP_004455.2:p.Thr184GlnfsTer9
NM_033143.2:c.*74del	NP_149134.1:n.*74del
NM_001291812.2:c.121del	NP_001278741.1:p.Thr41GlnfsTer9
NM_004464.4:c.550del MANE Select	NP_004455.2:p.Thr184GlnfsTer9