Canonical Allele Identifier: CA357397259
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286399-A-G
MyVariant Identifiers: chr4:g.81207553A>G (hg19) chr4:g.80286399A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.534A>G MANE Select ENSP00000311697.7:p.Ile178Met
ENST00000312465.11:c.534A>G ENSP00000311697.7:p.Ile178Met
ENST00000456523.3:c.*58A>G ENSP00000398353.3:n.*58A>G
ENST00000503413.1:n.483A>G
ENST00000507780.1:c.342+11387A>G ENSP00000423903.1:n.342+11387A>G
NM_001291812.1:c.105A>G NP_001278741.1:p.Ile35Met
NM_004464.3:c.534A>G NP_004455.2:p.Ile178Met
NM_033143.2:c.*58A>G NP_149134.1:n.*58A>G
NM_001291812.2:c.105A>G NP_001278741.1:p.Ile35Met
NM_004464.4:c.534A>G MANE Select NP_004455.2:p.Ile178Met
Search 100 bp 5'
Search 100 bp 3'