Canonical Allele Identifier: CA2671179871
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286684-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286684G>C , CM000666.2:g.80286684G>C GRCh38
NC_000004.11:g.81207838G>C , CM000666.1:g.81207838G>C GRCh37
NC_000004.10:g.81426862G>C NCBI36
NG_029501.1:g.25097G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*12G>C MANE Select ENSP00000311697.7:n.*12G>C
ENST00000312465.11:c.*12G>C ENSP00000311697.7:n.*12G>C
ENST00000456523.3:c.*343G>C ENSP00000398353.3:n.*343G>C
ENST00000503413.1:n.768G>C
ENST00000507780.1:c.342+11672G>C ENSP00000423903.1:n.342+11672G>C
NM_001291812.1:c.*12G>C NP_001278741.1:n.*12G>C
NM_004464.3:c.*12G>C NP_004455.2:n.*12G>C
NM_033143.2:c.*343G>C NP_149134.1:n.*343G>C
NM_001291812.2:c.*12G>C NP_001278741.1:n.*12G>C
NM_004464.4:c.*12G>C MANE Select NP_004455.2:n.*12G>C