Canonical Allele Identifier: CA2600888002

Gene: FGF5

Linked Data

• dbSNP Id: rs2109931264
• gnomAD v3: 4-80286766-T-G
• gnomAD v4: 4-80286766-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286766T>G , CM000666.2:g.80286766T>G	GRCh38
NC_000004.11:g.81207920T>G , CM000666.1:g.81207920T>G	GRCh37
NC_000004.10:g.81426944T>G	NCBI36
NG_029501.1:g.25179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*94T>G MANE Select	ENSP00000311697.7:n.*94T>G
ENST00000312465.11:c.*94T>G	ENSP00000311697.7:n.*94T>G
ENST00000456523.3:c.*425T>G	ENSP00000398353.3:n.*425T>G
ENST00000503413.1:n.850T>G
ENST00000507780.1:c.342+11754T>G	ENSP00000423903.1:n.342+11754T>G
NM_001291812.1:c.*94T>G	NP_001278741.1:n.*94T>G
NM_004464.3:c.*94T>G	NP_004455.2:n.*94T>G
NM_033143.2:c.*425T>G	NP_149134.1:n.*425T>G
NM_001291812.2:c.*94T>G	NP_001278741.1:n.*94T>G
NM_004464.4:c.*94T>G MANE Select	NP_004455.2:n.*94T>G