Canonical Allele Identifier: CA357398583

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286568-G-T
• MyVariant Identifiers: chr4:g.81207722G>T (hg19) ; chr4:g.80286568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286568G>T , CM000666.2:g.80286568G>T	GRCh38
NC_000004.11:g.81207722G>T , CM000666.1:g.81207722G>T	GRCh37
NC_000004.10:g.81426746G>T	NCBI36
NG_029501.1:g.24981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.703G>T MANE Select	ENSP00000311697.7:p.Glu235Ter
ENST00000312465.11:c.703G>T	ENSP00000311697.7:p.Glu235Ter
ENST00000456523.3:c.*227G>T	ENSP00000398353.3:n.*227G>T
ENST00000503413.1:n.652G>T
ENST00000507780.1:c.342+11556G>T	ENSP00000423903.1:n.342+11556G>T
NM_001291812.1:c.274G>T	NP_001278741.1:p.Glu92Ter
NM_004464.3:c.703G>T	NP_004455.2:p.Glu235Ter
NM_033143.2:c.*227G>T	NP_149134.1:n.*227G>T
NM_001291812.2:c.274G>T	NP_001278741.1:p.Glu92Ter
NM_004464.4:c.703G>T MANE Select	NP_004455.2:p.Glu235Ter