Canonical Allele Identifier: CA2982738

Gene: FGF5

Linked Data

• dbSNP Id: rs762447981
• ExAC: 4:81207728 A / G
• gnomAD v2: 4-81207728-A-G
• MyVariant Identifiers: chr4:g.81207728A>G (hg19) ; chr4:g.80286574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286574A>G , CM000666.2:g.80286574A>G	GRCh38
NC_000004.11:g.81207728A>G , CM000666.1:g.81207728A>G	GRCh37
NC_000004.10:g.81426752A>G	NCBI36
NG_029501.1:g.24987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.709A>G MANE Select	ENSP00000311697.7:p.Lys237Glu
ENST00000312465.11:c.709A>G	ENSP00000311697.7:p.Lys237Glu
ENST00000456523.3:c.*233A>G	ENSP00000398353.3:n.*233A>G
ENST00000503413.1:n.658A>G
ENST00000507780.1:c.342+11562A>G	ENSP00000423903.1:n.342+11562A>G
NM_001291812.1:c.280A>G	NP_001278741.1:p.Lys94Glu
NM_004464.3:c.709A>G	NP_004455.2:p.Lys237Glu
NM_033143.2:c.*233A>G	NP_149134.1:n.*233A>G
NM_001291812.2:c.280A>G	NP_001278741.1:p.Lys94Glu
NM_004464.4:c.709A>G MANE Select	NP_004455.2:p.Lys237Glu