Canonical Allele Identifier: CA2578127169
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286759-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286759C>A , CM000666.2:g.80286759C>A GRCh38
NC_000004.11:g.81207913C>A , CM000666.1:g.81207913C>A GRCh37
NC_000004.10:g.81426937C>A NCBI36
NG_029501.1:g.25172C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*87C>A MANE Select ENSP00000311697.7:n.*87C>A
ENST00000312465.11:c.*87C>A ENSP00000311697.7:n.*87C>A
ENST00000456523.3:c.*418C>A ENSP00000398353.3:n.*418C>A
ENST00000503413.1:n.843C>A
ENST00000507780.1:c.342+11747C>A ENSP00000423903.1:n.342+11747C>A
NM_001291812.1:c.*87C>A NP_001278741.1:n.*87C>A
NM_004464.3:c.*87C>A NP_004455.2:n.*87C>A
NM_033143.2:c.*418C>A NP_149134.1:n.*418C>A
NM_001291812.2:c.*87C>A NP_001278741.1:n.*87C>A
NM_004464.4:c.*87C>A MANE Select NP_004455.2:n.*87C>A