Canonical Allele Identifier: CA2671179904
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286761-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286761C>G , CM000666.2:g.80286761C>G GRCh38
NC_000004.11:g.81207915C>G , CM000666.1:g.81207915C>G GRCh37
NC_000004.10:g.81426939C>G NCBI36
NG_029501.1:g.25174C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*89C>G MANE Select ENSP00000311697.7:n.*89C>G
ENST00000312465.11:c.*89C>G ENSP00000311697.7:n.*89C>G
ENST00000456523.3:c.*420C>G ENSP00000398353.3:n.*420C>G
ENST00000503413.1:n.845C>G
ENST00000507780.1:c.342+11749C>G ENSP00000423903.1:n.342+11749C>G
NM_001291812.1:c.*89C>G NP_001278741.1:n.*89C>G
NM_004464.3:c.*89C>G NP_004455.2:n.*89C>G
NM_033143.2:c.*420C>G NP_149134.1:n.*420C>G
NM_001291812.2:c.*89C>G NP_001278741.1:n.*89C>G
NM_004464.4:c.*89C>G MANE Select NP_004455.2:n.*89C>G