Canonical Allele Identifier: CA2671179956
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286805-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286805T>C , CM000666.2:g.80286805T>C GRCh38
NC_000004.11:g.81207959T>C , CM000666.1:g.81207959T>C GRCh37
NC_000004.10:g.81426983T>C NCBI36
NG_029501.1:g.25218T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*133T>C MANE Select ENSP00000311697.7:n.*133T>C
ENST00000312465.11:c.*133T>C ENSP00000311697.7:n.*133T>C
ENST00000456523.3:c.*464T>C ENSP00000398353.3:n.*464T>C
ENST00000503413.1:n.889T>C
ENST00000507780.1:c.342+11793T>C ENSP00000423903.1:n.342+11793T>C
NM_001291812.1:c.*133T>C NP_001278741.1:n.*133T>C
NM_004464.3:c.*133T>C NP_004455.2:n.*133T>C
NM_033143.2:c.*464T>C NP_149134.1:n.*464T>C
NM_001291812.2:c.*133T>C NP_001278741.1:n.*133T>C
NM_004464.4:c.*133T>C MANE Select NP_004455.2:n.*133T>C