Canonical Allele Identifier: CA2671179892
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286716-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286716G>T , CM000666.2:g.80286716G>T GRCh38
NC_000004.11:g.81207870G>T , CM000666.1:g.81207870G>T GRCh37
NC_000004.10:g.81426894G>T NCBI36
NG_029501.1:g.25129G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*44G>T MANE Select ENSP00000311697.7:n.*44G>T
ENST00000312465.11:c.*44G>T ENSP00000311697.7:n.*44G>T
ENST00000456523.3:c.*375G>T ENSP00000398353.3:n.*375G>T
ENST00000503413.1:n.800G>T
ENST00000507780.1:c.342+11704G>T ENSP00000423903.1:n.342+11704G>T
NM_001291812.1:c.*44G>T NP_001278741.1:n.*44G>T
NM_004464.3:c.*44G>T NP_004455.2:n.*44G>T
NM_033143.2:c.*375G>T NP_149134.1:n.*375G>T
NM_001291812.2:c.*44G>T NP_001278741.1:n.*44G>T
NM_004464.4:c.*44G>T MANE Select NP_004455.2:n.*44G>T