Canonical Allele Identifier: CA440227804

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286438-C-G
• MyVariant Identifiers: chr4:g.81207592C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286438C>G , CM000666.2:g.80286438C>G	GRCh38
NC_000004.11:g.81207592C>G , CM000666.1:g.81207592C>G	GRCh37
NC_000004.10:g.81426616C>G	NCBI36
NG_029501.1:g.24851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.573C>G MANE Select	ENSP00000311697.7:p.Ala191=
ENST00000312465.11:c.573C>G	ENSP00000311697.7:p.Ala191=
ENST00000456523.3:c.*97C>G	ENSP00000398353.3:n.*97C>G
ENST00000503413.1:n.522C>G
ENST00000507780.1:c.342+11426C>G	ENSP00000423903.1:n.342+11426C>G
NM_001291812.1:c.144C>G	NP_001278741.1:p.Ala48=
NM_004464.3:c.573C>G	NP_004455.2:p.Ala191=
NM_033143.2:c.*97C>G	NP_149134.1:n.*97C>G
NM_001291812.2:c.144C>G	NP_001278741.1:p.Ala48=
NM_004464.4:c.573C>G MANE Select	NP_004455.2:p.Ala191=