Canonical Allele Identifier: CA357397871
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286481G>T , CM000666.2:g.80286481G>T GRCh38
NC_000004.11:g.81207635G>T , CM000666.1:g.81207635G>T GRCh37
NC_000004.10:g.81426659G>T NCBI36
NG_029501.1:g.24894G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.616G>T MANE Select ENSP00000311697.7:p.Val206Phe
ENST00000312465.11:c.616G>T ENSP00000311697.7:p.Val206Phe
ENST00000456523.3:c.*140G>T ENSP00000398353.3:n.*140G>T
ENST00000503413.1:n.565G>T
ENST00000507780.1:c.342+11469G>T ENSP00000423903.1:n.342+11469G>T
NM_001291812.1:c.187G>T NP_001278741.1:p.Val63Phe
NM_004464.3:c.616G>T NP_004455.2:p.Val206Phe
NM_033143.2:c.*140G>T NP_149134.1:n.*140G>T
NM_001291812.2:c.187G>T NP_001278741.1:p.Val63Phe
NM_004464.4:c.616G>T MANE Select NP_004455.2:p.Val206Phe