Canonical Allele Identifier: CA2982699

Gene: FGF5

Linked Data

• dbSNP Id: rs759008533
• ExAC: 4:81207576 G / A
• gnomAD v2: 4-81207576-G-A
• gnomAD v4: 4-80286422-G-A
• MyVariant Identifiers: chr4:g.81207576G>A (hg19) ; chr4:g.80286422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286422G>A , CM000666.2:g.80286422G>A	GRCh38
NC_000004.11:g.81207576G>A , CM000666.1:g.81207576G>A	GRCh37
NC_000004.10:g.81426600G>A	NCBI36
NG_029501.1:g.24835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.557G>A MANE Select	ENSP00000311697.7:p.Arg186Gln
ENST00000312465.11:c.557G>A	ENSP00000311697.7:p.Arg186Gln
ENST00000456523.3:c.*81G>A	ENSP00000398353.3:n.*81G>A
ENST00000503413.1:n.506G>A
ENST00000507780.1:c.342+11410G>A	ENSP00000423903.1:n.342+11410G>A
NM_001291812.1:c.128G>A	NP_001278741.1:p.Arg43Gln
NM_004464.3:c.557G>A	NP_004455.2:p.Arg186Gln
NM_033143.2:c.*81G>A	NP_149134.1:n.*81G>A
NM_001291812.2:c.128G>A	NP_001278741.1:p.Arg43Gln
NM_004464.4:c.557G>A MANE Select	NP_004455.2:p.Arg186Gln