Canonical Allele Identifier: CA357399501
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207820T>G (hg19) chr4:g.80286666T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286666T>G , CM000666.2:g.80286666T>G GRCh38
NC_000004.11:g.81207820T>G , CM000666.1:g.81207820T>G GRCh37
NC_000004.10:g.81426844T>G NCBI36
NG_029501.1:g.25079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.801T>G MANE Select ENSP00000311697.7:p.Phe267Leu
ENST00000312465.11:c.801T>G ENSP00000311697.7:p.Phe267Leu
ENST00000456523.3:c.*325T>G ENSP00000398353.3:n.*325T>G
ENST00000503413.1:n.750T>G
ENST00000507780.1:c.342+11654T>G ENSP00000423903.1:n.342+11654T>G
NM_001291812.1:c.372T>G NP_001278741.1:p.Phe124Leu
NM_004464.3:c.801T>G NP_004455.2:p.Phe267Leu
NM_033143.2:c.*325T>G NP_149134.1:n.*325T>G
NM_001291812.2:c.372T>G NP_001278741.1:p.Phe124Leu
NM_004464.4:c.801T>G MANE Select NP_004455.2:p.Phe267Leu
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