Canonical Allele Identifier: CA440227754
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207553A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286399A>T , CM000666.2:g.80286399A>T GRCh38
NC_000004.11:g.81207553A>T , CM000666.1:g.81207553A>T GRCh37
NC_000004.10:g.81426577A>T NCBI36
NG_029501.1:g.24812A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.534A>T MANE Select ENSP00000311697.7:p.Ile178=
ENST00000312465.11:c.534A>T ENSP00000311697.7:p.Ile178=
ENST00000456523.3:c.*58A>T ENSP00000398353.3:n.*58A>T
ENST00000503413.1:n.483A>T
ENST00000507780.1:c.342+11387A>T ENSP00000423903.1:n.342+11387A>T
NM_001291812.1:c.105A>T NP_001278741.1:p.Ile35=
NM_004464.3:c.534A>T NP_004455.2:p.Ile178=
NM_033143.2:c.*58A>T NP_149134.1:n.*58A>T
NM_001291812.2:c.105A>T NP_001278741.1:p.Ile35=
NM_004464.4:c.534A>T MANE Select NP_004455.2:p.Ile178=