Canonical Allele Identifier: CA100032970

Gene: FGF5

Linked Data

• dbSNP Id: rs201516192
• gnomAD v3: 4-80286690-T-A
• gnomAD v4: 4-80286690-T-A
• MyVariant Identifiers: chr4:g.81207844T>A (hg19) ; chr4:g.80286690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286690T>A , CM000666.2:g.80286690T>A	GRCh38
NC_000004.11:g.81207844T>A , CM000666.1:g.81207844T>A	GRCh37
NC_000004.10:g.81426868T>A	NCBI36
NG_029501.1:g.25103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*18T>A MANE Select	ENSP00000311697.7:n.*18T>A
ENST00000312465.11:c.*18T>A	ENSP00000311697.7:n.*18T>A
ENST00000456523.3:c.*349T>A	ENSP00000398353.3:n.*349T>A
ENST00000503413.1:n.774T>A
ENST00000507780.1:c.342+11678T>A	ENSP00000423903.1:n.342+11678T>A
NM_001291812.1:c.*18T>A	NP_001278741.1:n.*18T>A
NM_004464.3:c.*18T>A	NP_004455.2:n.*18T>A
NM_033143.2:c.*349T>A	NP_149134.1:n.*349T>A
NM_001291812.2:c.*18T>A	NP_001278741.1:n.*18T>A
NM_004464.4:c.*18T>A MANE Select	NP_004455.2:n.*18T>A