Canonical Allele Identifier: CA440227670
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286357-G-A
MyVariant Identifiers: chr4:g.81207511G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286357G>A , CM000666.2:g.80286357G>A GRCh38
NC_000004.11:g.81207511G>A , CM000666.1:g.81207511G>A GRCh37
NC_000004.10:g.81426535G>A NCBI36
NG_029501.1:g.24770G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.492G>A MANE Select ENSP00000311697.7:p.Glu164=
ENST00000312465.11:c.492G>A ENSP00000311697.7:p.Glu164=
ENST00000456523.3:c.*16G>A ENSP00000398353.3:n.*16G>A
ENST00000503413.1:n.441G>A
ENST00000507780.1:c.342+11345G>A ENSP00000423903.1:n.342+11345G>A
NM_001291812.1:c.63G>A NP_001278741.1:p.Glu21=
NM_004464.3:c.492G>A NP_004455.2:p.Glu164=
NM_033143.2:c.*16G>A NP_149134.1:n.*16G>A
NM_001291812.2:c.63G>A NP_001278741.1:p.Glu21=
NM_004464.4:c.492G>A MANE Select NP_004455.2:p.Glu164=
Search 100 bp 5'
Search 100 bp 3'