Canonical Allele Identifier: CA2671179905
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286761-C-T

Genomic Alleles

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

Transcript Alleles

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