Canonical Allele Identifier: CA357396875
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207518C>G (hg19) chr4:g.80286364C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286364C>G , CM000666.2:g.80286364C>G GRCh38
NC_000004.11:g.81207518C>G , CM000666.1:g.81207518C>G GRCh37
NC_000004.10:g.81426542C>G NCBI36
NG_029501.1:g.24777C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.499C>G MANE Select ENSP00000311697.7:p.Gln167Glu
ENST00000312465.11:c.499C>G ENSP00000311697.7:p.Gln167Glu
ENST00000456523.3:c.*23C>G ENSP00000398353.3:n.*23C>G
ENST00000503413.1:n.448C>G
ENST00000507780.1:c.342+11352C>G ENSP00000423903.1:n.342+11352C>G
NM_001291812.1:c.70C>G NP_001278741.1:p.Gln24Glu
NM_004464.3:c.499C>G NP_004455.2:p.Gln167Glu
NM_033143.2:c.*23C>G NP_149134.1:n.*23C>G
NM_001291812.2:c.70C>G NP_001278741.1:p.Gln24Glu
NM_004464.4:c.499C>G MANE Select NP_004455.2:p.Gln167Glu
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