Canonical Allele Identifier: CA357398793

Gene: FGF5

Linked Data

• dbSNP Id: rs1464286562
• gnomAD v2: 4-81207744-C-G
• gnomAD v4: 4-80286590-C-G
• MyVariant Identifiers: chr4:g.81207744C>G (hg19) ; chr4:g.80286590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286590C>G , CM000666.2:g.80286590C>G	GRCh38
NC_000004.11:g.81207744C>G , CM000666.1:g.81207744C>G	GRCh37
NC_000004.10:g.81426768C>G	NCBI36
NG_029501.1:g.25003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.725C>G MANE Select	ENSP00000311697.7:p.Pro242Arg
ENST00000312465.11:c.725C>G	ENSP00000311697.7:p.Pro242Arg
ENST00000456523.3:c.*249C>G	ENSP00000398353.3:n.*249C>G
ENST00000503413.1:n.674C>G
ENST00000507780.1:c.342+11578C>G	ENSP00000423903.1:n.342+11578C>G
NM_001291812.1:c.296C>G	NP_001278741.1:p.Pro99Arg
NM_004464.3:c.725C>G	NP_004455.2:p.Pro242Arg
NM_033143.2:c.*249C>G	NP_149134.1:n.*249C>G
NM_001291812.2:c.296C>G	NP_001278741.1:p.Pro99Arg
NM_004464.4:c.725C>G MANE Select	NP_004455.2:p.Pro242Arg