Canonical Allele Identifier: CA2982688

Gene: FGF5

Linked Data

• dbSNP Id: rs587777581
• ExAC: 4:81207539 T / G
• gnomAD v2: 4-81207539-T-G
• gnomAD v4: 4-80286385-T-G
• MyVariant Identifiers: chr4:g.81207539T>G (hg19) ; chr4:g.80286385T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286385T>G , CM000666.2:g.80286385T>G	GRCh38
NC_000004.11:g.81207539T>G , CM000666.1:g.81207539T>G	GRCh37
NC_000004.10:g.81426563T>G	NCBI36
NG_029501.1:g.24798T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.520T>G MANE Select	ENSP00000311697.7:p.Tyr174Asp
ENST00000312465.11:c.520T>G	ENSP00000311697.7:p.Tyr174Asp
ENST00000456523.3:c.*44T>G	ENSP00000398353.3:n.*44T>G
ENST00000503413.1:n.469T>G
ENST00000507780.1:c.342+11373T>G	ENSP00000423903.1:n.342+11373T>G
NM_001291812.1:c.91T>G	NP_001278741.1:p.Tyr31Asp
NM_004464.3:c.520T>G	NP_004455.2:p.Tyr174Asp
NM_033143.2:c.*44T>G	NP_149134.1:n.*44T>G
NM_001291812.2:c.91T>G	NP_001278741.1:p.Tyr31Asp
NM_004464.4:c.520T>G MANE Select	NP_004455.2:p.Tyr174Asp