Canonical Allele Identifier: CA440227768
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207568A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286414A>G , CM000666.2:g.80286414A>G GRCh38
NC_000004.11:g.81207568A>G , CM000666.1:g.81207568A>G GRCh37
NC_000004.10:g.81426592A>G NCBI36
NG_029501.1:g.24827A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.549A>G MANE Select ENSP00000311697.7:p.Lys183=
ENST00000312465.11:c.549A>G ENSP00000311697.7:p.Lys183=
ENST00000456523.3:c.*73A>G ENSP00000398353.3:n.*73A>G
ENST00000503413.1:n.498A>G
ENST00000507780.1:c.342+11402A>G ENSP00000423903.1:n.342+11402A>G
NM_001291812.1:c.120A>G NP_001278741.1:p.Lys40=
NM_004464.3:c.549A>G NP_004455.2:p.Lys183=
NM_033143.2:c.*73A>G NP_149134.1:n.*73A>G
NM_001291812.2:c.120A>G NP_001278741.1:p.Lys40=
NM_004464.4:c.549A>G MANE Select NP_004455.2:p.Lys183=
Search 100 bp 5'
Search 100 bp 3'