Canonical Allele Identifier: CA440228081

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286558-T-G
• MyVariant Identifiers: chr4:g.81207712T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286558T>G , CM000666.2:g.80286558T>G	GRCh38
NC_000004.11:g.81207712T>G , CM000666.1:g.81207712T>G	GRCh37
NC_000004.10:g.81426736T>G	NCBI36
NG_029501.1:g.24971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.693T>G MANE Select	ENSP00000311697.7:p.Val231=
ENST00000312465.11:c.693T>G	ENSP00000311697.7:p.Val231=
ENST00000456523.3:c.*217T>G	ENSP00000398353.3:n.*217T>G
ENST00000503413.1:n.642T>G
ENST00000507780.1:c.342+11546T>G	ENSP00000423903.1:n.342+11546T>G
NM_001291812.1:c.264T>G	NP_001278741.1:p.Val88=
NM_004464.3:c.693T>G	NP_004455.2:p.Val231=
NM_033143.2:c.*217T>G	NP_149134.1:n.*217T>G
NM_001291812.2:c.264T>G	NP_001278741.1:p.Val88=
NM_004464.4:c.693T>G MANE Select	NP_004455.2:p.Val231=