Canonical Allele Identifier: CA2982685

Gene: FGF5

Linked Data

• dbSNP Id: rs745662451
• ExAC: 4:81207513 G / A
• gnomAD v2: 4-81207513-G-A
• gnomAD v3: 4-80286359-G-A
• gnomAD v4: 4-80286359-G-A
• MyVariant Identifiers: chr4:g.81207513G>A (hg19) ; chr4:g.80286359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286359G>A , CM000666.2:g.80286359G>A	GRCh38
NC_000004.11:g.81207513G>A , CM000666.1:g.81207513G>A	GRCh37
NC_000004.10:g.81426537G>A	NCBI36
NG_029501.1:g.24772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.494G>A MANE Select	ENSP00000311697.7:p.Arg165His
ENST00000312465.11:c.494G>A	ENSP00000311697.7:p.Arg165His
ENST00000456523.3:c.*18G>A	ENSP00000398353.3:n.*18G>A
ENST00000503413.1:n.443G>A
ENST00000507780.1:c.342+11347G>A	ENSP00000423903.1:n.342+11347G>A
NM_001291812.1:c.65G>A	NP_001278741.1:p.Arg22His
NM_004464.3:c.494G>A	NP_004455.2:p.Arg165His
NM_033143.2:c.*18G>A	NP_149134.1:n.*18G>A
NM_001291812.2:c.65G>A	NP_001278741.1:p.Arg22His
NM_004464.4:c.494G>A MANE Select	NP_004455.2:p.Arg165His