Canonical Allele Identifier: CA357397519
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs1720722078
gnomAD v3: 4-80286427-T-C
gnomAD v4: 4-80286427-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286427T>C , CM000666.2:g.80286427T>C GRCh38
NC_000004.11:g.81207581T>C , CM000666.1:g.81207581T>C GRCh37
NC_000004.10:g.81426605T>C NCBI36
NG_029501.1:g.24840T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.562T>C MANE Select ENSP00000311697.7:p.Trp188Arg
ENST00000312465.11:c.562T>C ENSP00000311697.7:p.Trp188Arg
ENST00000456523.3:c.*86T>C ENSP00000398353.3:n.*86T>C
ENST00000503413.1:n.511T>C
ENST00000507780.1:c.342+11415T>C ENSP00000423903.1:n.342+11415T>C
NM_001291812.1:c.133T>C NP_001278741.1:p.Trp45Arg
NM_004464.3:c.562T>C NP_004455.2:p.Trp188Arg
NM_033143.2:c.*86T>C NP_149134.1:n.*86T>C
NM_001291812.2:c.133T>C NP_001278741.1:p.Trp45Arg
NM_004464.4:c.562T>C MANE Select NP_004455.2:p.Trp188Arg