Canonical Allele Identifier: CA2982704

Gene: FGF5

Linked Data

• dbSNP Id: rs745607469
• ExAC: 4:81207603 G / A
• gnomAD v2: 4-81207603-G-A
• gnomAD v3: 4-80286449-G-A
• gnomAD v4: 4-80286449-G-A
• MyVariant Identifiers: chr4:g.81207603G>A (hg19) ; chr4:g.80286449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286449G>A , CM000666.2:g.80286449G>A	GRCh38
NC_000004.11:g.81207603G>A , CM000666.1:g.81207603G>A	GRCh37
NC_000004.10:g.81426627G>A	NCBI36
NG_029501.1:g.24862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.584G>A MANE Select	ENSP00000311697.7:p.Arg195Lys
ENST00000312465.11:c.584G>A	ENSP00000311697.7:p.Arg195Lys
ENST00000456523.3:c.*108G>A	ENSP00000398353.3:n.*108G>A
ENST00000503413.1:n.533G>A
ENST00000507780.1:c.342+11437G>A	ENSP00000423903.1:n.342+11437G>A
NM_001291812.1:c.155G>A	NP_001278741.1:p.Arg52Lys
NM_004464.3:c.584G>A	NP_004455.2:p.Arg195Lys
NM_033143.2:c.*108G>A	NP_149134.1:n.*108G>A
NM_001291812.2:c.155G>A	NP_001278741.1:p.Arg52Lys
NM_004464.4:c.584G>A MANE Select	NP_004455.2:p.Arg195Lys